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809,128 | PMC12731193 | 29,882 | 809128 | FY*B, FY*B[265T]_FY*X, which is expressed on the RBCs of 1-2% of Caucasians, comprised the largest group of variants in the current study. FY*A, FY*B[265T]_FY*X and FY*B_GATA were the next-most frequent variants. Lopez et al. reported FY*A, FY*B[265T]_FY*X as the most frequent variant in their study, not only in donors... | [
559
] | [
7
] | [
1
] |
3,551,367 | 35814489 | 35,462 | 3551367 | 1-FT cut sparsifiers of G: H1 and H2. (a) G with 36 edges and edge weight 1. (b) H1 with 18 edges and edge weight 2. (c) H2 with 12 edges and edge weight 3. Without loss of generality consider that v is faulty. The Min-Cut of G - {v} is 5, while the Min-Cut of H1 - {v} and H2 - {v} are 4 and 3, respectively. Then H1 an... | [
42
] | [
9
] | [
1
] |
3,955,812 | 38779468 | 17,325 | 3955812 | Prostate cancer, specifically the castration-resistant form (CRPC), has continued to be a significant challenge in the medical field. Our study, centering on the identification of binding sites for wild-type and mutated androgenic receptors, provides invaluable insights into potential therapeutic interventions for CRPC... | [
518
] | [
5
] | [
1
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4,623,437 | 23691058 | 39,488 | 4623437 | In a recent work in a case-control study using GWAS data on the COGA sample, Edenberg et al identified the most significant SNP rs10511260 on chromosome 3 with p-value (P) = 3.4x10- 6. A cluster of SNPs was found in a region of chromosome 11 with p-values ranging from 4.8x10- 5 to 6.9x10- 4. No single SNP showed genome... | [
128
] | [
10
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1,337,066 | PMC12414625 | 17,160 | 1337066 | Among the 15 alleles associated with increased thigh intermuscular adipose tissue, 12 had a negative effect on liver PDFF (p=0.018). rs17036160-T within PPARG had the biggest effect on thigh intermuscular adipose tissue. This variant is associated with higher TIMP4 expression in visceral adipose tissue (p=2E - 6) and i... | [
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4,702,491 | 35865663 | 12,933 | 4702491 | VEGFC gene is located on chromosome 4q34.3 and has many SNPs, including rs7664413, rs11947611, rs2046463, and rs3775194. All four of them are located in the intron region. As we discussed previously, only the rs3775194 genotype distribution of the four SNPs was associated with AITD compared with the control group. Neit... | [
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4,755,067 | 21323638 | 10,452 | 4755067 | RGL1N was purified as an MBP-fusion protein by ion-exchange chromatography and amylose affinity purification according to methods described previously. GID1A was expressed and purified as an MBP-fusion protein as described in the pMAL system manual (New England Biolabs), with the following exceptions: expression was in... | [
332
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] | [
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2,328,874 | 30837950 | 14,884 | 2328874 | Prior to our study Wang et al. made a meta-analysis on DBP SNPs and T2DM that included six studies (three Caucasian and three Asian cohorts) with 1,191 cases and 882 controls. No overall association between the DBP SNPs rs4588 and rs7041 and T2DM was found. However, when analyzing the Asian cohorts separately, there we... | [
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3,385,191 | 37369952 | 156 | 3385191 | Several studies have revealed that vitamin D deficiency is linked to an increased risk of developing coronavirus disease 19 (COVID-19). In individuals with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections, vitamin D receptor activation is required to decrease acute respiratory distress syndro... | [
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4,716,012 | 34236317 | 49,913 | 4716012 | YLY strain was generated by inducing a single-bp deletion at position 3705 of the LYS2 gene of the YBP250 wild-type strain using the pML104-3'mut plasmid, which contains the Cas9 and a 20mer guide sequence (GCCAATTCATTTTCTTTGGG). pML104-3'mut plasmid was constructed by inserting the LYS2 region from nucleotide 3700 to ... | [
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909,718 | 25390694 | 18,291 | 909718 | Box and whiskers plots show expression index dispersion 24h after co-transfection of miRNA 525-5p or scrambled mRNAs with empty pEGFP-N1 or carrying each of the four 3'UTR VPAC-1 rs896-rs9677 haplotype constructs. The rs896 T allele is associated with a weaker miRNA 525-5p-dependent reduction in respect to the C varian... | [
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4,137,394 | 41113904 | 22,752 | 4137394 | CDH2, commonly referred to as N-cadherin, is a key component of the classical cadherin family and has been extensively implicated in the development of various tissues and organs during developmental processes. Human Protein Atlas portal (HPA) knowledge resource shows that CDH2 is a membrane protein that is most abunda... | [
574
] | [
10
] | [
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] |
691,374 | 22354677 | 88 | 691374 | L1CAM molecule is a cell adhesion molecule in nervous and enteric systems and is responsible for X-linked hydrocephalus (XLH) spectrum, which is a rare condition with severe congenital hydrocephalus, dysgenesis of the corpus callosum, intellectual disability, spasticity, and adducted thumbs. Several cases of XLH accomp... | [
798
] | [
4
] | [
1
] |
931,369 | 25369206 | 18,777 | 931369 | Irisin was originally characterized as a regulator of brown-fat-like development in specific depots of white adipose tissue, whose overexpression in mice resulted in increased energy expenditure, improved glucose tolerance, and modest but significant weight loss. Irisin has since been linked to a variety of disorders, ... | [
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2,749,423 | 33657022 | 128 | 2749423 | Bernard-Soulier syndrome is a rare autosomal recessive bleeding disorder and has a low incidence. Bernard-Soulier syndrome is caused by the deficiency of glycoprotein GPIb-V-IX complex, a receptor for von Willebrand factor and is characterized by thrombocytopenia, giant platelets and bleeding tendency. We are reporting... | [
775,
784
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3,726,341 | 34064523 | 17,447 | 3726341 | In the current study, of the eight SNPs missing in the NeuroX dataset, apart from one SNP (rs8118008):due to its absence in the HRC reference panel:seven were successfully imputed. Analysis of the imputed genotype data successfully replicated 21 of the 22 PD risk loci that were originally replicated in Nalls et al. (20... | [
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2,547,786 | 30054507 | 16,327 | 2547786 | Knocking down DRP1 protects HK-2 cells from mitochondrial fission, mitochondrial transmembrane depolarization and cytotoxicity induced by cobalt and H/R. HK-2 cells were transfected with control or DRP1-specific siRNAs for 24 h as described in "Methods". Cells were then exposed to cobalt (300 microM) for 16-20 h or inc... | [
383
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3,562,082 | 27798611 | 14,927 | 3562082 | Another potential application of CRISPR-X is the investigation of mechanisms of drug resistance. Mutations are a common escape pathway for cancer cells to develop resistance to drug treatment, and understanding which mutations can arise is important for the design of new drugs or drug combinations. To test this, we mut... | [
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1,828,417 | 24901696 | 2,513 | 1828417 | As Tullberg notes, interpersonal trust comprises trustfulness and trustworthiness. Trustfulness applies to the trustor, who might habitually trust in the good-will and cooperativeness of others, a concept which Rotter already described in an early account as "generalized expectancies for interpersonal trust" (p.443). T... | [
791
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3,228,310 | 27054168 | 12,875 | 3228310 | Effects of PAO, DIDS, and tBHP on change of A540 in suspension of Ca2+-loaded succinate-energized rat liver mitochondria. | [
44
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2,199,683 | 24099797 | 82,900 | 2199683 | Effect of hormone replacement therapy on plasma lipoproteins and apolipoproteins, endothelial function and myocardial perfusion in postmenopausal women with estrogen receptor-alpha IVS1-397 C/C genotype and established coronary artery disease | [
181
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4,784,147 | 18326623 | 91 | 4784147 | We performed a three-phase genome-wide association study (GWAS) using cases and controls from a genetically isolated population, Ashkenazi Jews (AJ), to identify loci associated with breast cancer risk. In the first phase, we compared allele frequencies of 150,080 SNPs in 249 high-risk, BRCA1/2 mutation-negative AJ fam... | [
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5,337,220 | 27308025 | 25,153 | 5337220 | D:H A D:H H A D A D:H A C5B:H5BA Br1 0.98 2.77 3.63 (8) 147 C9A:H9AA Br6ii 0.97 2.80 3.60 (3) 140 C9B:H9BA S4iii 0.97 2.75 3.46 (10) 130 C9B:H9BB Br6ii 0.96 2.61 3.40 (11) 140 C10A:H10A Br4iv 0.97 2.92 3.83 (4) 156 C10A:H10B S3iii 0.97 2.81 3.57 (3) 136 C10B:H10D Br4iv 0.98 2.67 3.61... | [
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5,277,386 | 25940397 | 30,830 | 5277386 | SNP Alleles(M/m)a Cases/Controlsb M vs mc Pallele Mm vs MM Phet mm vs MM Phom Mm+mm vs MM Pdom Ptrend MM Mm mm rs10936599 C/T 1126/2152 578/1395 101/235 0.84 (0.76-0.93) 0.001 0.78 (0.69-0.89) 0.0001 0.82 (0.64-1.06) 0.139 0.79 (0.70-0.89) 0.0001 0.0089 rs10936603 G/T 1045/2036 573/1364 119/280 0.87 (0.79-0.96) 0... | [
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2,317,623 | 18239666 | 20,466 | 2317623 | No. Mean (SD) Genetic P tSNP Phenotypes 11/12/22 11 12 22 Model Var. GEE rs7849191 Central fat, kg 851/ 1148/ 349 1.34(0.75) 1.30(0.70) 1.35(0.73) Dominant 0.2% 0.030 Central fat, % 851/ 1148/ 349 31.4(11.3) 30.5(11.6) 31.8(11.7) Dominant 0.1% 0.014 Waist, cm 846/ 1166/ 352 78.7(10.9) 77.9(9.6) 78.4(10.4) ... | [
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199,271 | 31254371 | 15,795 | 199271 | Dutch cohort American cohort Combined cohort Rubeanic acid staining score Quantitative copper Quantitative copper Quantitative copper (n = 122 dogs) (n = 91 dogs) (n = 78 dogs) (n = 169 dogs) Covariables Effect estimate SE R2 P value Effect estimate SE R2 P value Effect estimate SE R2 P value Effect estimate S... | [
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434
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4,020,790 | 28093566 | 9,467 | 4020790 | Genotyping was performed using the Omni-Quad 1 M or the Omni Express BeadChips (Illumina) as previously described. Genotypes for rs7570903 did not deviate from Hardy-Weinberg proportions, and 118 women had available genotype and methylation data. To test for association, cg22937172, each outcome was regressed on rs7570... | [
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5,247,948 | 26196543 | 126 | 5247948 | Leprosy continues to be prevalent in some mountainous regions of China, and genotypes of leprosy strains endemic to the country are not known. Mycobacterium lepromatosis is a new species that was discovered in Mexico in 2008, and it remains unclear whether this species exists in China. Here, we conducted PCR- restricti... | [
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3,078,824 | 29595475 | 38,019 | 3078824 | Limb bud formation entailed the remodeling of the flat epithelium into a 3D bulge (Figure 4A-C and Figure 4:figure supplement 2A-C). At the cellular level, the first step in this transformation was the rise of few cells at the intersection of the four compartments above the level of the germband at around 96 hr AEL (Fi... | [
126
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1,806,649 | 35860267 | 18,291 | 1806649 | Pairwise LD map for SNPs rs1800896; rs1800871; rs1800872 across IL-10 region. Lewontin's D' measure and r2 values of LD are shown. | [
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1,711,513 | 24782597 | 6,463 | 1711513 | Total RNA was extracted with TRIZOL Reagent (Life Technologies, Rockville, MD). RNA reverse transcription (RT) system was used according to the manufacturer's instructions (Promega, Madison, WI, USA) and RT-PCR was performed as follows: for UG, forward primer (within exon 1): 5'-CTC ACC CTG GTC ACA CTG G-3'; reverse pr... | [
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2,107,818 | 40394707 | 3,963 | 2107818 | Early pharmacogenetic studies have suggested that individuals homozygous for the C allele (CC) at rs2832407 exhibit greater reductions in heavy drinking days (HDDs) in response to topiramate treatment, and that this polymorphism was also associated with differences in topiramate-induced side effects and serum drug conc... | [
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4,726,665 | 27486979 | 15,384 | 4726665 | The strongest association we observed in the Japanese population was between the A allele of rs1063192 and a decreased PDAC risk. This finding gives rise to two considerations: the first is that even though the association does not reach the threshold of significance considering Bonferroni's correction, it is unlikely ... | [
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1,762,567 | 30315176 | 54,314 | 1762567 | The analysis plans for cohort-level association analyses, meta-analyses, candidate gene interrogation, and replication of rs150255373 are included in Supplementary Note 2. The programs that implemented these analysis plans are available upon request. | [
122
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3,596,484 | 38086930 | 11,736 | 3596484 | When interpreting our results, the following limitations should be considered. The most important limitation is that we did not measure IL-13 or IgE concentrations in the study participants, which might provide more information about the observed associations. Nevertheless, this is the first pilot study in a Polish pop... | [
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3,291,414 | 36101664 | 1,366 | 3291414 | This study concludes as rs17846866 and rs1501299 SNPs were strongly associated in the Saudi population with T2DM patients. | [
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5,259,162 | 28211916 | 38,954 | 5259162 | Gene symbol Polymorphism Sequence of primers Restriction enzyme Products eNOS 894G > T (rs1799983) F 5' AAggCAggAgACAgTggATgg A 3' R 5' CCC AgT CAA TCC CTT TggTgC TCA 3' MboI GG 248 bp GT 248, 158, 90 bp TT 158, 90 bp eNOS -786T > C (rs2070744) F 5' CCA CCC TgT CAT TCA gTg AC 3' R 5 TCT CTgAgg TCT CgA AAT CA3' PdiI... | [
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1,345,532 | 34673650 | 103 | 1345532 | INTRODUCTION: Warfarin is widely used and will continue to be prescribed especially in developing countries due to its low cost. Given the huge patient load requiring anticoagulation, there is a need to develop strategies to optimize warfarin therapy for ensuring safe and effective anticoagulation. In the present work,... | [
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2,617,228 | 38984987 | 14,896 | 2617228 | The E6K variant, although not reported in the literature as a causal mutation for any known disease, was found in population databases with a very low allele frequency (rs769769057, gnomAD = 0.000007126) and has been reported as a Variant of Uncertain Significance in the ClinVar database. Our data shows the presence of... | [
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3,137,612 | 31749696 | 3,888 | 3137612 | The association between genes regulating monocytes or microglial response with neurodegenerative disorders also supports the major role that neuroinflammation exerts in cognitive dysfunction. An example of this is the Triggering Receptor Expressed on Myeloid (TREM), a key component of innate and adaptive immunity, whic... | [
1269
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9
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4,762,985 | 28827115 | 0 | 4762985 | Effect of IL15 rs10833 and SCARB1 rs10846744 on virologic responses in chronic hepatitis C patients treated with pegylated interferon-alpha and ribavirin. | [
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34
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3,957,719 | 40889797 | 38,290 | 3957719 | All the 284 variants in the region were reported to be eQTLs of at least 1 of the 11 genes mapping in this same region (STPG4, alias C2orf61, CALM2, FOXN2, FSHR, GTF2A1L, LHCGR, MSH2, MSH6, PPP1R21, STON1, and STON1-GTF2A1L) in several tissues (false discovery rate (FDR)<0.05; online supplemental table 7). Only three e... | [
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2,478,686 | 30333719 | 31,002 | 2478686 | The evidence presented here emphasizes the relevance of the neuroimaging genetics field. However, there are several methodological issues that should be considered and that, as in many other cases could account for the conflicting results found through the literature on BDNF Val66Met SNP (for more information see Notar... | [
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1,257,796 | 32775018 | 33,944 | 1257796 | Results from the sensitivity meta-analyses of the LINGO1 rs9652490 for association with ET. | [
57
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2,188,033 | 27042114 | 12,274 | 2188033 | CYP3A5 rs776746 polymorphism and clinical response to chemotherapy in NSCLC patients | [
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] | [
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2,322,719 | 33002091 | 21,848 | 2322719 | The PLA2R rs4664308*A/A homozygous wild-type genotype was significantly more frequent in PMN patients (62%) than in controls (43%) and in SLE patients (40%); p = 0.0018 and p = 0.009, respectively (Table 3). Likewise, the frequency of the PLA2R rs4664308*A wild-type allele was significantly higher in PMN patients (0.80... | [
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2,432,229 | 36735720 | 68,811 | 2432229 | Reviewer #1: Setinc and colleagues present results from a study of long-lived Croatian's using targeted genotyping methods. Of the 43 variants genotyped - each with strong a priori evidence from the literature - two (2) were associated with survival to age 90+ in the multivariate model with p<0.01. In the univariate an... | [
346
] | [
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] | [
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2,140,852 | 40585241 | 39,015 | 2140852 | Rs1071644 is associated with AD risk. | [
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374,395 | 33920733 | 39,588 | 374395 | Additionally, variants within the abovementioned APOA5 gene show strong interethnic differences (for review see). For example, one of the variants (rs3135506) commonly present in almost 30% of Hispanics and in approximately 14% of Caucasians and Africans is almost completely missing in Asians (less than 1%). In contras... | [
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602,791 | 25740255 | 11,288 | 602791 | To further confirm this observation, we explored by stratification analyses the associations of rs12979860 genotype in the fibrosis progression sub-cohort (that is, estimated duration of infection). Overall, as reported previously, women had slower fibrosis progression than men (median FPR was 0.071 versus 0.087; P=0.0... | [
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343
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593,364 | 27391418 | 21,896 | 593364 | Genotype and allele frequency distribution of VCAM-1 rs1041163. | [
53
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1,363,161 | 38645486 | 36,366 | 1363161 | Sirtuin 1 rs1467568 and rs7895833 in South African Indians with early-onset coronary artery disease | [
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24
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2,121,131 | 38003536 | 45,175 | 2121131 | GENE VARIANT RS Studies (n) Cases/Controls (n) RE ORG 95% LL 95% UL I2(%)/Gamma PQ/SE(Gamma) PE IL1A C-899T rs1800587 2 594/789 0.94 0.71 1.24 0.00 0.75 - IL1B C-511T rs16944 2 530/661 0.92 0.60 1.42 64.36 0.09 - IL1B rs1143627 1 178/495 1.44 1.08 1.93 0.18 0.07 - IL1RN allele L vs. 2 1 67/246 0.79 0.47 1.31 ... | [
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2,144,667 | 40316706 | 34,498 | 2144667 | Genetic variant Prolonged* Clinical and Endoscopy RemissionN Univariate analysis Multivariate analysis corrected by age, sex, smoking, and use of anti-TNF Genotype No Yes OR CI Pvalue Pvalue OR CI Pvalue Pvalue rs6871626 0 = CC 114(93%) 8(7%) 122 Ref Ref Ref 0.03 Ref Ref 0.0001 0.03 1 = AC 124(89%) 16(11%) 140 ... | [
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5,371,391 | 34975870 | 33,347 | 5371391 | In this study, we identified two CLR mutations in our patient cohort and investigated each patient's CLR expression before associating these factors with the incidence of IA. The S32G mutation identified in Mcl has been previously described (rs4304840). This missense mutation results in the substitution of serine to gl... | [
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1,275,750 | 20485516 | 11,448 | 1275750 | The two remaining SNPs in Table 2 were found in the same region around 126,300K to126,400 K on chromosome 10. The SNPs rs1006368 and rs11245330 within the gene FAM53B (10q26.13), are 35kb apart and in complete LD (r2 of 1). They had the same meta-analysis p-value from the twin cohorts of 4.94x10-08. An imputed SNP rs49... | [
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3
] |
1,015,592 | 16670016 | 4,781 | 1015592 | As the discordant results could most plausibly be explained by allelic drop-out, we sequenced the 900 bp region covering the primer sequences for both the methods in 40 subjects (25 Asian Indians and 15 Caucasians). Sequence analysis identified several polymorphisms (Fig. 1) of which three were located in the primer bi... | [
378,
387,
578,
588,
665
] | [
7,
10,
8,
9,
8
] | [
1,
3,
1,
3,
1
] |
43,952 | 39393515 | 15,568 | 43952 | The Ile191Val TAS1R2 gene polymorphism (rs35874116) was determined by a TaqMan allelic discrimination assay (#4351379, ThermoFisher Scientific) following specifications, including non-template controls and reference samples for each genotype. The assay was performed independently twice, leading to concordant results wi... | [
4,
40
] | [
9,
10
] | [
2,
3
] |
2,446,707 | 38698200 | 13,294 | 2446707 | In addition to overlapping our variants with ATAC-Seq peaks, we also consulted the ChromHMM model-based profile of chromatin states for cattle muscle (Functional Annotation of Animal and Genomes consortium database:FAANG). This model uses known epigenetic signals of histone marks and CTCF sites to characterize regulato... | [
634,
647,
663,
723,
739
] | [
11,
11,
11,
11,
11
] | [
3,
3,
3,
3,
3
] |
3,510,354 | 40376268 | 15,995 | 3510354 | Carriage of ten other mutations in nine genes was confirmed in the tested Saudi participants. The mutations have the potential to affect the response of patients to 10 drugs commonly used in the country's healthcare system. Two variants in ATIC (rs4673993, T allele) and SLC19A1 (rs1051266, C allele), which impact metho... | [
246,
280,
979,
1003
] | [
9,
9,
10,
9
] | [
3,
3,
3,
3
] |
4,071,721 | 40872681 | 91 | 4071721 | The size of the gluteus medius muscle (GM) in swine significantly impacts both hindlimb conformation and carcass yield, while little is known about the genetic architecture of this trait. This study aims to estimate genetic parameters and identify candidate genes associated with this trait through a genome-wide associa... | [
884,
896,
909,
925
] | [
10,
11,
10,
10
] | [
3,
3,
3,
3
] |
1,082,052 | 32595297 | 708 | 1082052 | The genome-wide QTL analysis identified four single nucleotide polymorphisms (SNPs) (rs7684645 near APELA, rs12538843 near YAE1D1 and POU6F2, rs11074258 near MCTP2, and rs34396552 near CIDEA) that were significantly associated with the number of inattention symptoms in ADHD. These SNPs showed possible association with ... | [
85,
107,
142,
169
] | [
9,
10,
10,
10
] | [
3,
3,
3,
3
] |
2,193,112 | 36397430 | 24,955 | 2193112 | Forest plot of the connection of LSP1 rs3817198 polymorphism with breast cancer risk. (A) dominant model, (B) recessive model, (C) heterozygote model, (D) homozygote model, (E) additive model. LSP1 = leukocyte-specific protein 1. | [
38
] | [
9
] | [
3
] |
108,820 | 38336623 | 9,295 | 108820 | Position SNP ID Gene SNP Amino acid substitution Genotype GLM p-value GLM Bonferroni-adjusted p-value AA AB BB 15,820,556 rs720528091 RDH8 c.451G > A V151M 439 87 3 6.19E-01 8.04E + 00 15,820,574 rs136794063 RDH8 c.469G > T A157S 229 253 47 3.96E-02 5.15E-01 15,884,198 rs208565993 ANGPTL6 c.368C > T A123V 349 1... | [
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781,321 | 39449908 | 13,191 | 781321 | In our study, we validated that the CT genotype of the rs4939827 variant was associated with an increased risk of CRC, but this was not the case for the CC genotype. Using allelic frequency, we observed a positive tendency for decreased CRC risk with the T allele, although statistical significance was not reached. This... | [
55
] | [
9
] | [
3
] |
837,093 | 34656082 | 618 | 837093 | This case-control study was conducted on 108 Brucellosis patients and 108 healthy controls. We genotyped two SNPs (rs2910164 and rs57095329) of the miR-146a using tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) and restriction fragment length polymorphism-polymerase chain re... | [
115,
129
] | [
9,
10
] | [
3,
3
] |
3,784,811 | 22945592 | 11,082 | 3784811 | In white, African and Asian populations, the strongest association between ABCG2 and gout involved the single nucleotide polymorphism (SNP) rs2231142 in exon 5, which causes a Glu141Lys amino acid substitution. A meta-analysis of GWAS data showed that the Glu141Lys polymorphism accounted for 0.57% of the variation in s... | [
140,
176,
256,
455
] | [
9,
9,
9,
9
] | [
3,
2,
2,
2
] |
3,938,960 | 34465876 | 22,160 | 3938960 | SNP-count. allele Gene Subgroup CADD Supplemental oxygen Mechanical ventilation CPAP BPD case/control BPD-trend test p Val. Effect size (CI95) p Val. Effect size (CI95) p Val. Effect size (CI95) p Val. Effect size (CI95) p Val. Effect size (CI95) rs11265269-T CRP Recognition 3.1 0.005 -0.217 (-0.37 to -0.067) 0... | [
255,
441,
628,
812,
991,
1176,
1361
] | [
10,
9,
9,
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9
] | [
3,
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3,
3
] |
3,148,092 | 31644615 | 8,733 | 3148092 | In total, 212 BD patients and 200 healthy controls were genotyped for the rs10515746 and rs9313439 SNPs. The allele and genotype frequencies for these SNPs are indicated in table 3. | [
74,
89
] | [
10,
9
] | [
3,
3
] |
116,168 | 41414879 | 23,832 | 116168 | Genetic variants significant in univariate analysis were included as covariates in multivariate linear regression alongside non-genetic factors (e.g., sex, age, BMI, relevant medical history, annual blood transfusion volume, baseline SF and LIC) using a forward stepwise approach to evaluate their independent contributi... | [
357
] | [
11
] | [
3
] |
1,004,893 | 30385857 | 17,572 | 1004893 | GGA_Mba Traits associated SNP IDb Haplotype blocksc Start-End positiona Size (kb) PCGsd 7_36 CFC, CFCDM rs312848275 36,163,395-36,333,047 169.653 NR4A2, GPD2 28_4 CFCDM rs313086976 4,111,155-4,174,053 62.899 INSR | [
108,
175,
210
] | [
11,
11,
8
] | [
3,
3,
1
] |
3,376,506 | 30733965 | 10,556 | 3376506 | To expand the knowledge about genetic predisposition of psoriatic patients to obesity and related conditions, we aimed to investigate this association with SNP rs9930609 of FTO gene. To the best of our knowledge our research is the first one showing an association of this polymorphism with obesity, some metabolic distu... | [
160
] | [
9
] | [
3
] |
4,147,851 | 37373338 | 16,038 | 4147851 | Table 7 shows the allele and genotype frequencies of the VDR gene polymorphism SNPs, BsmI (1024 + 283 G > A, rs1544410) and VDR FokI (c.2T > C, rs2228570), in the study group. The BsmI polymorphism was shown to have a G allele frequency of 50.8% and an A allele frequency of 49.2%. In contrast, for the FokI polymorphism... | [
91,
109,
134,
144
] | [
16,
9,
8,
9
] | [
1,
3,
1,
3
] |
1,235,609 | 34238370 | 21,106 | 1235609 | Our meta-analysis demonstrated an association between KCNQ1 rs2237892 polymorphism and the predisposition to T2DM. There was notable correlation between KCNQ1 rs2237892 and T2DM in East Asian populations and West Asian populations. However, for the Southeast Asian, South Asian, Caucasian, and other populations, the rel... | [
60,
159,
340,
720
] | [
9,
9,
9,
9
] | [
3,
3,
3,
3
] |
1,579,348 | 36314849 | 21,919 | 1579348 | B SE Wald OR CI p Value rs8192675 -0.69 0.26 7.27 0.50 0.30-0.83 0.007 rs9924771 0.631 0.26 5.76 1.90 1.14-3.19 0.015 Age 0.012 0.01 1.09 1.01 0.99-1.3 0.297 Sex 0.461 0.30 2.43 1.59 0.89-2.83 0.119 BMI -0.033 0.03 1.85 0.97 0.92-1.02 0.173 Hyperlipidaemia 0.156 0.33 0.23 1.17 0.62-2.22 0.634 CKD stage ... | [
28,
77
] | [
9,
9
] | [
3,
3
] |
3,420,894 | 21832968 | 125 | 3420894 | BACKGROUND AND OBJECTIVE: Dry cough is the most common reason for stopping angiotensin-converting enzyme inhibitors (ACEi) therapy. The role of ACE in the metabolism of bradykinin has been proposed as a pathogenic mechanism. This study included a complete analysis of the variability of the genes involved in bradykinin ... | [
850,
901,
1157,
1236,
1250,
1356,
1369
] | [
9,
8,
6,
9,
9,
8,
9
] | [
3,
3,
3,
3,
3,
3,
3
] |
4,214,507 | 41257555 | 41,103 | 4214507 | Our transcriptomic analysis revealed significant differential expression of keratin (KRT) and keratin-associated protein (KAP) genes between hairy and coarse-woolly sheep, highlighting their critical roles in determining hair fiber characteristics. KRTs form the intermediate filament backbone while KAPs constitute the ... | [
1152
] | [
9
] | [
3
] |
3,270,188 | 27775635 | 13,697 | 3270188 | This study showed that the genetic variants of HLA-DM gene may have an important role in treatment response in the Chinese population. Rs23544, rs1063478, baseline glucose, baseline platelet and T4 level were independent predictors of SVR. Rs1063478 located in the missense mutation region and may play an important role... | [
135,
144,
240
] | [
7,
9,
9
] | [
3,
3,
3
] |
871,967 | 26184988 | 22,166 | 871967 | Gene CHR SNP HWE p-value A1 MAF Main Effect p-value GxE p-value CHRNB2 1 1-154533463 0.6474 C 0.01315 0.2068 0.1084 CHRNB2 1 rs115411271 0.1634 A 0.07538 0.8443 0.218 CHRNA9 4 rs10024518 0.5969 A 0.03761 0.9377 0.8081 CHRNA9 4 rs116380416 0.0898 G 0.01364 0.4925 0.2434 CHRNA9 4 rs112422052 0.1074 T 0.01414 0.... | [
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3,
3,
3,
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3,
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3,
3,
3
] |
1,505,556 | 33271510 | 28,671 | 1505556 | Two APOE single nucleotide polymorphisms (SNPs) (rs429358 and rs7412) were genotyped from buffy coat samples to study its interactions with dietary and nutritional factors. Using the additional DNA extracted from buffy coat we plan to generate epigenome-wide methylation data. DNA methylome changes with increasing age. ... | [
49,
62
] | [
8,
6
] | [
3,
3
] |
3,854,931 | 35683627 | 5,571 | 3854931 | The presentation of self-antigens in the thymus that might favor the development of certain organ-specific autoimmune disorders is also conceived to be influenced by genetic variability in the AIRE locus and the presence of heterozygous loss-of-function mutations of the AIRE gene. In this regard, AIRE variants have ind... | [
1099,
1525,
1564,
1584,
1695,
1723,
1899,
1924
] | [
5,
10,
5,
11,
10,
9,
9,
5
] | [
2,
3,
2,
2,
3,
3,
3,
2
] |
2,962,804 | 19834535 | 8,758 | 2962804 | One promoter region SNP that showed strong association with total expression is rs705704, which is 274 base pairs upstream of the transcription start site of ribosomal protein S26 (RPS26, p = 1.2x10-20, Figure 1A). Individuals with the AA genotype have the highest expression, heterozygotes have medium expression, and G... | [
80
] | [
8
] | [
3
] |
2,863,147 | 28685717 | 15,461 | 2863147 | The functional characters of SNPs were explored by RegulomeDB [Table 1]. Rs2523946 was a reported cis-eQTL for HLA-A in lymphoblastoids and fibroblasts. Rs72848263, rs114929610, rs36173887, rs115222936, and rs28383345 could affect the binding motifs of transcription factors determined by footprinting in RegulomeDB. Int... | [
153,
165,
178,
190,
207,
380,
483
] | [
10,
11,
10,
11,
10,
9,
10
] | [
3,
3,
3,
3,
3,
3,
3
] |
1,547,636 | 39333082 | 99,587 | 1547636 | We generated an SV callset using the ensemble GATK-SV pipeline (https://github.com/broadinstitute/gatk-sv). Briefly, we performed joint genotyping and harmonized SV calls from multiple detection tools (Manta, Wham, MELT, GATK-gCNV, and cn.MOPS), as well as manual read inspection using IGV, and estimated SV allele frequ... | [
588
] | [
23
] | [
0
] |
3,242,423 | 35441217 | 12,438 | 3242423 | Germline deletions identified in RCC-CSGs. (A) Two VHL gene exons are deleted in two participants. Participant A has a 13 kb deletion (chr3:10 135 484-10 148 568, GRCh38) and the breakpoint locations are displayed in red on the MANE select VHL transcript (ENST00000256474). Participant B has a 10 kb deletion (chr3:10 13... | [
135,
310
] | [
26,
26
] | [
0,
0
] |
5,057,207 | 40170866 | 6,295 | 5057207 | We identified a novel in-frame deletion in PLCG2 (c.3417_3419del, p.E1139del) within the C2 domain of an APLAID patient. While this specific variant (g.81973600_81973602delAGA) remains unreported, a proximal genomic deletion (g.81973597_81973599delAGA) resulting in the identical glutamic acid residue loss at position 1... | [
50,
66,
150,
226,
370,
456,
984,
1314
] | [
14,
10,
25,
25,
23,
8,
5,
14
] | [
1,
2,
1,
1,
0,
2,
2,
1
] |
4,234,287 | 22215957 | 14,479 | 4234287 | Deletion at 19p13.3. Array-CGH analysis showed a single-copy loss of 84 oligonucleotide probes at 19p13.3, approximately 1.1 Mb in size (chr19:213,080-1,322,552, UCSC March 2006 hg18 assembly). Genes encompassed by the deletion are listed. | [
137
] | [
23
] | [
0
] |
5,181,548 | 36159868 | 39,080 | 5181548 | Similarly, we noticed a 10 kbp deletion in the paternal haplotype of HG002 at chr7:142,494,032-142,494,532 using GRCh37 or chr7:142,786,222-142,796,848 using GRCh38. Note that GRCh37 has 10,125 bps deleted with respect to GRCh38 at this locus. This deletion contained 2 D and 9 J alleles from TRBD1 to TRBJ2-2P ( Supplem... | [
78,
123
] | [
28,
28
] | [
0,
0
] |
1,040,805 | 27910131 | 20,920 | 1040805 | In addition to DUSP22, the top-ranked region (chr13:53,078,416 - 53,158,768bp) also contains a shared deletion (Figure 2). While nominally statistically significant (p=0.004), this shared deletion spanning pseudogene TPTE2P3 was not statistically significant after multiple testing adjustment nor has this region been pr... | [
46
] | [
31
] | [
0
] |
3,739,412 | 22736458 | 33,196 | 3739412 | Comparative genomics of the Hmx1 distal conserved region. (A) VISTA alignment of the dmbo deletion region. The reference sequence for the alignment is chr5:35,807,810-35,813,977 (version NCBI37/mm9) of the mouse genome. A highly conserved region of ~500 bp is detected across all mammalian species, and a core sequence i... | [
151
] | [
27
] | [
0
] |
1,731,749 | 26224010 | 9,725 | 1731749 | Paired-end NGS analysis of both cases revealed genomic deletions. Case 1 was shown to have an 11 Mb deletion (chr18:111,935-11,175,737) within 18p11.32-p11.21 and a 19.39 Mb deletion (chr18: 58,568,271-77,958,754) within 18q21.32-q23. In case 2, a 2.4 Mb deletion (chr18: 138,005-2,541,233) was detected within 18p11.32 ... | [
110,
184,
265,
344
] | [
24,
28,
24,
28
] | [
0,
0,
0,
0
] |
2,634,084 | 38605126 | 30,936 | 2634084 | First-line SR-NGS testing in the probands of families 11 (II:1) and 13 (II:1 and II:2) detected a single likely pathogenic variant in HYDIN: c.2419_2422del p.(Val807llefsTer13) in family 11 and c.1095del p.(Phe365LeufsTer64) in the two affected siblings in family 13 (Fig. 2E, F, Table 2). Due to the high clinical suspi... | [
141,
896,
1121
] | [
16,
23,
23
] | [
1,
0,
0
] |
2,128,254 | 39530251 | 8,105 | 2128254 | While the aneuploidy FISH panel and karyotyping did not reveal any chromosomal abnormalities, microarray analysis did detect three copy number variants across the sex chromosomes. Specifically, microarray detected (1) a terminal gain of 2.6 Mb of DNA from pseudoautosomal region 1 (PAR1) (chrX:60,814-2,693,175), (2) a g... | [
289,
370,
470
] | [
21,
24,
28
] | [
0,
0,
0
] |
3,242,930 | 35887629 | 9,376 | 3242930 | The TaqMan custom panel used in this study was described previously. The NGS custom panel was created on its basis and consisted of the same 115 variants (Supplementary Table S1). The TaqMan custom panel included 116 TaqMan assays because one large deletion CFTRdele2,3 (hg19::chr7:117138367-117159446) required two assa... | [
277,
446,
459,
472,
485
] | [
24,
11,
11,
11,
10
] | [
0,
3,
3,
3,
3
] |
499,796 | 22678282 | 22,702 | 499796 | To generate BAC reporter constructs harboring deletions of putative enhancer elements (E1-4) in the mouse Fezf2-Gfp BAC (RP23-141E17-Gfp; the GENSAT project ), homology arms A and B flanking the sequences targeted for deletion (E1, Chr14: 13204475-13204944, 470bp; E2, Chr14: 13183314-13183991, 678bp; E3, Chr14: 1318079... | [
232,
269,
306
] | [
31,
31,
31
] | [
0,
0,
0
] |
1,214,626 | 39858619 | 4,700 | 1214626 | If we exclude the LCR22C and D flanking sequences, the LCR22C-D deletion spans approximately 271 kb (GRCh38/hg38, chr22: 20,738,272-21,009,379) and harbors seven protein-coding genes (Figure 1). Identifying the exact number of genes harbored in the LCR22C-D deletions may be a challenge, since it is difficult to exactly... | [
114
] | [
28
] | [
0
] |
1,410,843 | 38840187 | 13,031 | 1410843 | Methylation analyses revealed no abnormal methylation pattern in SRS-related DMRs of cases 1 and 2. Subsequently, case 1 was found to have a de novo indel variant leading to frameshift and premature termination in exon 2 of HMGA2 (NM_003483.6:c.138_141delinsCT, p.(Lys46Asnfs*16)) which was confirmed by Sanger direct se... | [
243,
262,
732
] | [
17,
17,
27
] | [
1,
2,
0
] |
1,825,432 | PMC12390988 | 12,799 | 1825432 | Whole-exome sequencing (WES) excluded pathogenic variants in renal tubulopathy genes including SLC12A3 (Gitelman syndrome), SLC12A1, CLCNKB, BSND, KCNJ1, MAGED2 (Bartter syndrome), and CASR, CLCNKA, KCNJ10 (hypokalemia-associated genes). Case 5 harbored a heterozygous 3.0-kb deletion at chr20:57242542-57248800 (GRCh37/... | [
288
] | [
24
] | [
0
] |
4,090,859 | 39498320 | 7,427 | 4090859 | In all probands, the molecular cause of hearing loss had been previously investigated by screening of the c.35delG at GJB2 (NM_004004.5, GRC37), screening of two GJB6 deletions, del(GJB6-D13S1830) - chr13: 20,797,177-21,105,967:GRCh37 ~309Kb, and del(GJB6-D13S1854) - chr13: 20,802,726-21,034,755:GRCh37 ~232 Kb, and scr... | [
106,
199,
330
] | [
8,
28,
9
] | [
1,
0,
1
] |
1,730,416 | 29662167 | 15,221 | 1730416 | In ETS- cancers, losses at chr5:60-100Mb (CHD1 and RGMB), chr13:32-91Mb (which includes BRCA2, RB1 and FOXO1), and chr6:73-120Mb are followed by losses at chr2:124-142Mb, then by gains at chr3:100-187Mb, and then whole chromosome gain of chr7 (Fig. 4b). Loss of CHD1 has been previously implicated in the initiation of E... | [
27,
58,
115,
155,
188
] | [
14,
14,
13,
14,
14
] | [
0,
0,
0,
0,
0
] |
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