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