| ConceptID,ConceptLabel,Dependencies,TaxonomyID
|
| 1,Genetic Inference,,FOUND
|
| 2,Probability in Genetics,1,PROB
|
| 3,Conditional Probability,2,PROB
|
| 4,Bayesian Reasoning,3,PROB
|
| 5,Prior Probability,4,PROB
|
| 6,Posterior Probability,4|5,PROB
|
| 7,Likelihood Ratio,4|6,PROB
|
| 8,Pedigree Analysis,1|2,PED
|
| 9,Autosomal Dominant Pedigree,8,PED
|
| 10,Autosomal Recessive Pedigree,8,PED
|
| 11,X-Linked Inheritance,8,PED
|
| 12,X-Linked Recessive Pedigree,11,PED
|
| 13,X-Linked Dominant Pedigree,11,PED
|
| 14,Carrier Probability,4|10,PED
|
| 15,Penetrance,8|1,PED
|
| 16,Incomplete Penetrance,15,PED
|
| 17,Expressivity,15,PED
|
| 18,Variable Expressivity,17,PED
|
| 19,Phenocopy,15|17,PED
|
| 20,Genetic Heterogeneity,1,PED
|
| 21,Locus Heterogeneity,20,PED
|
| 22,Allelic Heterogeneity,20,PED
|
| 23,Epistasis,1,PED
|
| 24,Duplicate Epistasis,23,PED
|
| 25,Complementary Epistasis,23,PED
|
| 26,Suppressor Epistasis,23,PED
|
| 27,Epistatic Pathway Analysis,23|26,PED
|
| 28,Complementation Test,1|23,PED
|
| 29,Complementation Group,28,PED
|
| 30,Cis-Trans Test,28,PED
|
| 31,Allelism,28|29,PED
|
| 32,Functional Allelism,31,PED
|
| 33,Chi-Square Test,2,PROB
|
| 34,Goodness of Fit Test,33,PROB
|
| 35,Test Cross,1,PED
|
| 36,Reciprocal Cross,35,PED
|
| 37,Null Hypothesis in Genetics,33,PROB
|
| 38,P-Value Interpretation,37,PROB
|
| 39,Modified Mendelian Ratios,23|33,PED
|
| 40,Lethal Alleles,1,PED
|
| 41,Pleiotropy,1,PED
|
| 42,Genetic Background Effects,23|41,PED
|
| 43,Age of Onset,15|16,PED
|
| 44,Anticipation,43,PED
|
| 45,Genomic Imprinting,66,PED
|
| 46,Parent of Origin Effects,45,PED
|
| 47,Uniparental Disomy,45|106,PED
|
| 48,Mosaicism,1,PED
|
| 49,Somatic Mosaicism,48,PED
|
| 50,Germline Mosaicism,48,PED
|
| 51,Genome Organization,,FOUND
|
| 52,Chromosome Structure,51,GSTR
|
| 53,Euchromatin,52|59,GSTR
|
| 54,Heterochromatin,52|59,GSTR
|
| 55,Constitutive Heterochromatin,54,GSTR
|
| 56,Facultative Heterochromatin,54,GSTR
|
| 57,Centromere Structure,52,GSTR
|
| 58,Telomere Structure,52,GSTR
|
| 59,Chromatin,52,GSTR
|
| 60,Nucleosome,59,GSTR
|
| 61,Histone Proteins,60,GSTR
|
| 62,Histone Modifications,61,GSTR
|
| 63,Histone Acetylation,62,GSTR
|
| 64,Histone Methylation,62,GSTR
|
| 65,Chromatin Remodeling,62|59,GSTR
|
| 66,Epigenetics,62|68,GSTR
|
| 67,DNA Methylation,66,GSTR
|
| 68,CpG Islands,51,GSTR
|
| 69,Epigenetic Inheritance,66|67,GSTR
|
| 70,X-Inactivation,56|66,GSTR
|
| 71,Dosage Compensation,70,GSTR
|
| 72,Barr Body,70,GSTR
|
| 73,Genetic Variation,51,GVAR
|
| 74,Single Nucleotide Polymorphism,73,GVAR
|
| 75,Insertion Deletion Variant,73,GVAR
|
| 76,Copy Number Variation,73|77,GVAR
|
| 77,Structural Variation,73,GVAR
|
| 78,Chromosomal Inversion,77|52,GVAR
|
| 79,Chromosomal Translocation,77|52,GVAR
|
| 80,Chromosomal Deletion,77|52,GVAR
|
| 81,Chromosomal Duplication,77|52,GVAR
|
| 82,Tandem Repeat,73,GVAR
|
| 83,Short Tandem Repeat,82,GVAR
|
| 84,Microsatellite,83,GVAR
|
| 85,Minisatellite,82,GVAR
|
| 86,Variable Number Tandem Repeat,85,GVAR
|
| 87,Haplotype,74,GVAR
|
| 88,Haplotype Block,87|89,GVAR
|
| 89,Linkage Disequilibrium,87|111,GVAR
|
| 90,Tag SNP,88|89,GVAR
|
| 91,HapMap Project,87|90,GVAR
|
| 92,Transposable Elements,51|73,GVAR
|
| 93,DNA Transposon,92,GVAR
|
| 94,Retrotransposon,92,GVAR
|
| 95,LINE Element,94,GVAR
|
| 96,SINE Element,94,GVAR
|
| 97,Alu Element,96,GVAR
|
| 98,Transposon Mutagenesis,92|268,GVAR
|
| 99,Gene Duplication,77|51,GVAR
|
| 100,Paralog,99,GVAR
|
| 101,Ortholog,99|134,GVAR
|
| 102,Gene Family,99|100,GVAR
|
| 103,Pseudogene,99,GVAR
|
| 104,Segmental Duplication,99|77,GVAR
|
| 105,Polyploidy,51|106,GVAR
|
| 106,Aneuploidy,52,GVAR
|
| 107,Trisomy,106,GVAR
|
| 108,Monosomy,106,GVAR
|
| 109,Nondisjunction,106,GVAR
|
| 110,Chromosomal Rearrangement,77|78|79,GVAR
|
| 111,Linkage,,FOUND
|
| 112,Genetic Linkage,111|52,MAP
|
| 113,Recombination,111,MAP
|
| 114,Crossing Over,113|52,MAP
|
| 115,Recombination Frequency,113|114,MAP
|
| 116,Genetic Map,115,MAP
|
| 117,Map Distance,116,MAP
|
| 118,Centimorgan,117,MAP
|
| 119,Two-Point Cross,115|35,MAP
|
| 120,Three-Point Cross,119,MAP
|
| 121,Interference,120,MAP
|
| 122,Coefficient of Coincidence,121,MAP
|
| 123,Gene Order Determination,120,MAP
|
| 124,Genetic Markers,73|111,MAP
|
| 125,Molecular Markers,124,MAP
|
| 126,Restriction Fragment Length,125,MAP
|
| 127,Microsatellite Markers,84|125,MAP
|
| 128,SNP Markers,74|125,MAP
|
| 129,Physical Map,116|125,MAP
|
| 130,Cytogenetic Map,52|129,MAP
|
| 131,Radiation Hybrid Mapping,129,MAP
|
| 132,Somatic Cell Hybridization,131,MAP
|
| 133,Synteny,129|134,MAP
|
| 134,Comparative Genomics,306|129,MAP
|
| 135,Gene Discovery Strategies,124|116,MAP
|
| 136,Positional Cloning,135|129,MAP
|
| 137,Candidate Gene Approach,135,MAP
|
| 138,Linkage Analysis,112|124,MAP
|
| 139,LOD Score,138,MAP
|
| 140,LOD Score Threshold,139,MAP
|
| 141,Parametric Linkage,138,MAP
|
| 142,Nonparametric Linkage,138,MAP
|
| 143,Recombination Hotspots,113|114,MAP
|
| 144,Sex Differences in Mapping,116|143,MAP
|
| 145,Mitotic Recombination,113,MAP
|
| 146,Gene Conversion,113|145,MAP
|
| 147,Tetrad Analysis,113,MAP
|
| 148,Ordered Tetrad,147,MAP
|
| 149,Unordered Tetrad,147,MAP
|
| 150,Centromere Mapping,148|57,MAP
|
| 151,Half-Tetrad Analysis,147,MAP
|
| 152,Deletion Mapping,80|116,MAP
|
| 153,Complementation Mapping,28|116,MAP
|
| 154,Fine Structure Mapping,116|155,MAP
|
| 155,Intragenic Recombination,113,MAP
|
| 156,Quantitative Genetics,,FOUND
|
| 157,Quantitative Trait,156,QUANT
|
| 158,Continuous Variation,157,QUANT
|
| 159,Polygenic Inheritance,157|158,QUANT
|
| 160,Multifactorial Trait,159,QUANT
|
| 161,Threshold Trait,160,QUANT
|
| 162,Heritability,156|169,QUANT
|
| 163,Broad Sense Heritability,162,QUANT
|
| 164,Narrow Sense Heritability,162|165,QUANT
|
| 165,Additive Genetic Variance,169,QUANT
|
| 166,Dominance Variance,169,QUANT
|
| 167,Epistatic Variance,169|23,QUANT
|
| 168,Environmental Variance,169,QUANT
|
| 169,Phenotypic Variance,156|157,QUANT
|
| 170,Twin Studies,162,QUANT
|
| 171,Monozygotic Twins,170,QUANT
|
| 172,Dizygotic Twins,170,QUANT
|
| 173,Concordance Rate,170|171|172,QUANT
|
| 174,Heritability Estimation,162|170,QUANT
|
| 175,Quantitative Trait Locus,156|124,QUANT
|
| 176,QTL Mapping,175|116,QUANT
|
| 177,Interval Mapping,176,QUANT
|
| 178,Marker Assisted Selection,176|175,QUANT
|
| 179,GWAS,74|175|189,QUANT
|
| 180,Manhattan Plot,179,QUANT
|
| 181,Significance Threshold,179|182,QUANT
|
| 182,Multiple Testing Correction,179,QUANT
|
| 183,Bonferroni Correction,182,QUANT
|
| 184,False Discovery Rate,182,QUANT
|
| 185,Effect Size,179,QUANT
|
| 186,Odds Ratio,185,QUANT
|
| 187,Polygenic Risk Score,179|185,QUANT
|
| 188,Missing Heritability,162|179,QUANT
|
| 189,Population Genetics,,FOUND
|
| 190,Allele Frequency,189,POP
|
| 191,Genotype Frequency,190,POP
|
| 192,Hardy-Weinberg Equilibrium,190|191,POP
|
| 193,Hardy-Weinberg Assumptions,192,POP
|
| 194,Chi-Square HWE Test,192|33,POP
|
| 195,Natural Selection,189,POP
|
| 196,Fitness,195,POP
|
| 197,Selection Coefficient,196,POP
|
| 198,Directional Selection,195,POP
|
| 199,Stabilizing Selection,195,POP
|
| 200,Disruptive Selection,195,POP
|
| 201,Balancing Selection,195,POP
|
| 202,Heterozygote Advantage,201,POP
|
| 203,Genetic Drift,189,POP
|
| 204,Bottleneck Effect,203,POP
|
| 205,Founder Effect,203,POP
|
| 206,Gene Flow,189,POP
|
| 207,Migration,206,POP
|
| 208,Mutation Rate,189|73,POP
|
| 209,Population Structure,189|210,POP
|
| 210,Fixation Index,189|190,POP
|
| 211,Gene Expression,,FOUND
|
| 212,Transcription Regulation,211,REG
|
| 213,Promoter,212,REG
|
| 214,TATA Box,213,REG
|
| 215,Transcription Factor,212,REG
|
| 216,General Transcription Factor,215,REG
|
| 217,Specific Transcription Factor,215,REG
|
| 218,Activator,217,REG
|
| 219,Repressor,217,REG
|
| 220,Enhancer,212|217,REG
|
| 221,Silencer,212|219,REG
|
| 222,Insulator,220|221,REG
|
| 223,Cis-Regulatory Element,220|213,REG
|
| 224,Trans-Acting Factor,215,REG
|
| 225,Transcriptional Logic,220|226,REG
|
| 226,Combinatorial Control,215|220,REG
|
| 227,Gene Regulatory Network,211|215,REG
|
| 228,Network Motif,227,REG
|
| 229,Feedback Loop,228,REG
|
| 230,Feed-Forward Loop,228,REG
|
| 231,Operon Model,212,REG
|
| 232,Lac Operon,231,REG
|
| 233,Trp Operon,231,REG
|
| 234,Positive Regulation,218|231,REG
|
| 235,Negative Regulation,219|231,REG
|
| 236,Post-Transcriptional Reg,211,REG
|
| 237,RNA Splicing,236,REG
|
| 238,Alternative Splicing,237,REG
|
| 239,Exon Skipping,238,REG
|
| 240,RNA Editing,236,REG
|
| 241,mRNA Stability,236,REG
|
| 242,RNA Interference,236|243,MAP
|
| 243,MicroRNA,246,REG
|
| 244,Small Interfering RNA,242,REG
|
| 245,Long Noncoding RNA,246,REG
|
| 246,Noncoding RNA,211,REG
|
| 247,Riboswitch,246,REG
|
| 248,Translational Regulation,211,REG
|
| 249,Protein Degradation,211,REG
|
| 250,Ubiquitin Pathway,249,REG
|
| 251,Chromatin State,59|62,REG
|
| 252,Open Chromatin,251|63,GSTR
|
| 253,Closed Chromatin,251|64,GSTR
|
| 254,Bivalent Chromatin,251,GSTR
|
| 255,Poised Enhancer,220|254,GSTR
|
| 256,Super Enhancer,220,GSTR
|
| 257,Topologically Assoc Domain,251|258,GSTR
|
| 258,Chromatin Looping,251,GSTR
|
| 259,Cell Identity,260|227,REG
|
| 260,Cell Fate Determination,211|227,REG
|
| 261,Master Regulator Gene,260|215,REG
|
| 262,Pioneer Factor,261|251,REG
|
| 263,Stem Cell Gene Expression,259|211,FOUND
|
| 264,Differentiation,260,REG
|
| 265,Cellular Reprogramming,264|66,REG
|
| 266,Forward Genetics,,FOUND
|
| 267,Reverse Genetics,266,EXP
|
| 268,Mutagenesis Screen,266,EXP
|
| 269,Chemical Mutagenesis,268,EXP
|
| 270,EMS Mutagenesis,269,EXP
|
| 271,Insertional Mutagenesis,268|92,EXP
|
| 272,Saturation Mutagenesis,268,EXP
|
| 273,Enhancer Trap,271|220,EXP
|
| 274,Suppressor Screen,268,EXP
|
| 275,Modifier Screen,268|23,EXP
|
| 276,Genetic Mosaic Analysis,268|48,EXP
|
| 277,Clonal Analysis,276,EXP
|
| 278,Model Organism,,FOUND
|
| 279,Drosophila Genetics,278,EXP
|
| 280,Yeast Genetics,278,EXP
|
| 281,Mouse Genetics,278,EXP
|
| 282,C. Elegans Genetics,278,EXP
|
| 283,Zebrafish Genetics,278,EXP
|
| 284,Arabidopsis Genetics,278,EXP
|
| 285,Gene Knockout,267,EXP
|
| 286,Conditional Knockout,285,EXP
|
| 287,Knockdown,267,EXP
|
| 288,RNA Interference Screen,242|287,MAP
|
| 289,CRISPR-Cas9,267,EXP
|
| 290,Guide RNA Design,289,EXP
|
| 291,Gene Editing,289,EXP
|
| 292,Homology Directed Repair,291,EXP
|
| 293,NHEJ Repair,291,EXP
|
| 294,Base Editing,289,EXP
|
| 295,Prime Editing,289,EXP
|
| 296,Gene Drive,289|195,EXP
|
| 297,Transgenic Organism,291,EXP
|
| 298,Reporter Gene,297,EXP
|
| 299,GFP Reporter,298,EXP
|
| 300,Cre-Lox System,286|297,EXP
|
| 301,GAL4-UAS System,279|297,EXP
|
| 302,Functional Genomics,306|267,FOUND
|
| 303,Phenotype Scoring,268|278,EXP
|
| 304,Genetic Interaction,23|278,EXP
|
| 305,Synthetic Lethality,304,EXP
|
| 306,Genomics,,FOUND
|
| 307,Genome Sequencing,306,BIOINFO
|
| 308,Sanger Sequencing,307,BIOINFO
|
| 309,Next-Gen Sequencing,307,BIOINFO
|
| 310,Illumina Sequencing,309,BIOINFO
|
| 311,Long-Read Sequencing,309,BIOINFO
|
| 312,Whole Genome Sequencing,309,BIOINFO
|
| 313,Whole Exome Sequencing,309,BIOINFO
|
| 314,Targeted Sequencing,309,BIOINFO
|
| 315,Sequence Alignment,306,BIOINFO
|
| 316,BLAST Algorithm,315,BIOINFO
|
| 317,Pairwise Alignment,315,BIOINFO
|
| 318,Multiple Sequence Alignment,317,BIOINFO
|
| 319,Genome Annotation,306|315,BIOINFO
|
| 320,Gene Prediction,319,BIOINFO
|
| 321,Variant Calling,309|315,BIOINFO
|
| 322,VCF File Format,321,BIOINFO
|
| 323,FASTA File Format,306,BIOINFO
|
| 324,FASTQ File Format,309,BIOINFO
|
| 325,BAM File Format,309|315,BIOINFO
|
| 326,BED File Format,319,BIOINFO
|
| 327,Variant Annotation,321|319,BIOINFO
|
| 328,Variant Classification,327,BIOINFO
|
| 329,Benign Variant,328,BIOINFO
|
| 330,Pathogenic Variant,328,BIOINFO
|
| 331,Variant of Uncertain Sig,328,BIOINFO
|
| 332,Genomic Databases,306,BIOINFO
|
| 333,NCBI Database,332,BIOINFO
|
| 334,Ensembl Database,332,BIOINFO
|
| 335,UCSC Genome Browser,332,BIOINFO
|
| 336,ClinVar Database,332|328,BIOINFO
|
| 337,dbSNP Database,332|74,BIOINFO
|
| 338,Reproducible Workflows,306,BIOINFO
|
| 339,Pipeline Automation,338,BIOINFO
|
| 340,Version Control in Genomics,338,FOUND
|
| 341,RNA-Seq Analysis,309|211,BIOINFO
|
| 342,Differential Expression,341,BIOINFO
|
| 343,Gene Ontology,319|345,BIOINFO
|
| 344,Pathway Enrichment,342|343,BIOINFO
|
| 345,Functional Annotation,319,BIOINFO
|
| 346,Human Genetics,,FOUND
|
| 347,Mendelian Disease,346|8,CLIN
|
| 348,Complex Disease,346|159|179,CLIN
|
| 349,Genetic Counseling,346|350,CLIN
|
| 350,Risk Assessment,4|346,CLIN
|
| 351,Carrier Screening,349|14,CLIN
|
| 352,Newborn Screening,349,CLIN
|
| 353,Prenatal Genetic Testing,349,CLIN
|
| 354,Preimplantation Diagnosis,353,CLIN
|
| 355,Family History Assessment,8|349,CLIN
|
| 356,Pedigree Construction,8|355,PED
|
| 357,Genetic Testing Types,346,CLIN
|
| 358,Diagnostic Testing,357,CLIN
|
| 359,Predictive Testing,357,CLIN
|
| 360,Presymptomatic Testing,359,CLIN
|
| 361,Pharmacogenomics,346|211,FOUND
|
| 362,Drug Metabolism Variation,361,CLIN
|
| 363,CYP450 Polymorphisms,362|74,CLIN
|
| 364,Dosage Optimization,361|362,CLIN
|
| 365,Adverse Drug Reaction,362,CLIN
|
| 366,Companion Diagnostics,361|368,CLIN
|
| 367,Precision Medicine,346|361,CLIN
|
| 368,Targeted Therapy,367,CLIN
|
| 369,Biomarker Discovery,367|179,CLIN
|
| 370,Cancer Genetics,346,CLIN
|
| 371,Oncogene,370,CLIN
|
| 372,Tumor Suppressor Gene,370,CLIN
|
| 373,Two-Hit Hypothesis,372,CLIN
|
| 374,Somatic Mutation in Cancer,370|49,CLIN
|
| 375,Driver Mutation,374,CLIN
|
| 376,Passenger Mutation,374,CLIN
|
| 377,Tumor Mutational Burden,374|375,CLIN
|
| 378,Microsatellite Instability,84|374,CLIN
|
| 379,Lynch Syndrome,378|383,CLIN
|
| 380,BRCA Genes,372|383,CLIN
|
| 381,Liquid Biopsy,370,CLIN
|
| 382,Circulating Tumor DNA,381,CLIN
|
| 383,Hereditary Cancer Syndrome,370|372,CLIN
|
| 384,Chromosomal Instability,370|110,CLIN
|
| 385,Cancer Predisposition,383|370,CLIN
|
| 386,Genetic Risk Factor,179|346,CLIN
|
| 387,Polygenic Disease Risk,187|348,CLIN
|
| 388,Gene Therapy,291|346,CLIN
|
| 389,Antisense Therapy,388|246,CLIN
|
| 390,Gene Replacement Therapy,388,CLIN
|
| 391,Genetic Ethics,,FOUND
|
| 392,Informed Consent,391,ETHICS
|
| 393,Genetic Privacy,391,ETHICS
|
| 394,Genetic Discrimination,393,ETHICS
|
| 395,GINA Legislation,394,ETHICS
|
| 396,Data Ownership,393,ETHICS
|
| 397,Biobank Ethics,391|396,ETHICS
|
| 398,Return of Results,392|349,ETHICS
|
| 399,Incidental Findings,398,ETHICS
|
| 400,Duty to Warn,398|394,ETHICS
|
| 401,Equity in Genomic Medicine,391,ETHICS
|
| 402,Health Disparities,401,ETHICS
|
| 403,Diversity in Genomics,401,FOUND
|
| 404,Reference Genome Bias,403|306,ETHICS
|
| 405,Ancestry and Identity,189|391,ETHICS
|
| 406,Gene Editing Ethics,291|391,ETHICS
|
| 407,Germline Editing Debate,406,ETHICS
|
| 408,Somatic Gene Editing,406,EXP
|
| 409,Enhancement vs Therapy,406,ETHICS
|
| 410,Eugenics History,391,ETHICS
|
| 411,DTC Genetic Testing,346|391,ETHICS
|
| 412,DTC Testing Regulation,411,ETHICS
|
| 413,Genetic Literacy,391,ETHICS
|
| 414,Public Engagement,413,ETHICS
|
| 415,Science Communication,413,ETHICS
|
| 416,CRISPR Advancements,289,FRONT
|
| 417,CRISPR Therapeutics,416|388,FRONT
|
| 418,In Vivo Gene Editing,416,FRONT
|
| 419,Epigenome Editing,416|66,FRONT
|
| 420,Single-Cell Genomics,306,FOUND
|
| 421,Single-Cell RNA Sequencing,420|341,FRONT
|
| 422,Spatial Transcriptomics,421,FRONT
|
| 423,Cell Atlas Projects,420|421,FRONT
|
| 424,AI in Genomics,306,FOUND
|
| 425,Machine Learning Variants,424|321,FRONT
|
| 426,Deep Learning in Genomics,424,FOUND
|
| 427,Large Language Models Bio,426,FRONT
|
| 428,Protein Structure AI,426,FRONT
|
| 429,Long-Read Genomics,311,FOUND
|
| 430,Pangenome,306|73,FRONT
|
| 431,Pangenome Reference,430,FRONT
|
| 432,Structural Variant Calling,321|77,FRONT
|
| 433,Telomere-to-Telomere,58|311,FRONT
|
| 434,Metagenomics,306,FOUND
|
| 435,Microbiome Genetics,434,FRONT
|
| 436,Gene Regulation Atlas,227|420,FRONT
|
| 437,4D Nucleome,257|420,FRONT
|
| 438,Synthetic Genomics,306|291,FOUND
|
| 439,Xenotransplantation,291|391,FRONT
|
| 440,Emerging Research Methods,306,FRONT
|
| 441,Experimental Design,266|1,EXP
|
| 442,Hypothesis Testing,441|37,EXP
|
| 443,Data Interpretation,442|33,BIOINFO
|
| 444,Research Ethics,391|441,ETHICS
|
| 445,Scientific Communication,443|415,ETHICS
|
| 446,Computational Workflow,338|339,BIOINFO
|
| 447,Variant Interpretation,328|350,CLIN
|
| 448,Genotype-Phenotype Models,1|211|156,CLIN
|
| 449,Systems Genetics,227|175|189,CLIN
|
| 450,Capstone Genomic Project,446|447|448,FRONT
|
|
|
