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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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… Information Webinar: Developmental Genotype - Tissue Expression ( dGTEx ) Jyoti Dayal John Ilekis Program … rapid autopsy program •965 donors (2010 -2016) •Surveyed gene expression in 53 tissues •Provided new approach to map gene expression •Decoded regulatory regions of genome Over …
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… and#collaboration#with# the#Genotype#Tissue#Expression# (GTEx)#project,#which#is#also# … s#predictions# of#the# effects#of#genetic# variants#on#gene#expression,#and#c onsideration#that#genetic# … for#understanding#the#cell+ specific# nature#of#gene#expression# u # …
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… in OMIM • 18/52 (35%) of cases achieved a diagnosis • Gene Dx : 72 products of conception • 18% had definitive … negative Benefits of WGS in Perinatal Care • 8042 single gene disorders (leading cause of infant deaths) • Provides … T21 Step II: Differentially -Expressed Genes Step I: Gene Expression Microarrays Step III: Dysregulated Signaling …
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… this rule. The Y chromosome contains a "male-determining gene," the SRY gene , that causes testes to form in the embryo and results … internal male genitalia. If there is a mutation in the SRY gene, the embryo will develop female genitalia despite having …
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… genes that generate a phenotype in mice–Gene families targetable by drugs•Criteria for … score (ExAC)–ClinGenactionabilityscore–Genes with altered expression in affected cells, tissues–Genes with damaging de …
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… X3A . CONCEPT CLEARANCE – Developmental Genotype- Tissue Expression (RFA) – Jyoti Dayal Jyoti Dayal pr esented the … Developed in collaboration with NICHD, dGETx aims to study gene expression patterns across early post-natal , … the program would establish an atlas of tissue -specific gene expression data, enhance our understanding of regulatory …
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… of the material in this publication do not imply the expression of any opinion whatsoever on the part of the … . . . . . . . . . . . . . . . . . . . . . . . . . 34 2.5.4 Gene regulation . . . . . . . . . . . . . . . . . . . . . . . … . . . . . . . . . . . . . . . . . . . . . . . . . . 61 3.9 Gene therapy . . . . . . . . . . . . . . . . . . . . . . . . …
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… To NHGRI Goals Non-coding DNA is important for disease and gene regulation • Vast majority of common disease … for use in studies of: – genetic basis of disease – gene regulation 4 ENCODE Timeline 5 ENCODE Data Types 6 … predictions of the effects of genetic variation on gene expression will aid disease studies • Systems approaches are …
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… high throughput. • Enable improved cataloguing of protein gene products and “missing proteins” 4 SMPS –Why now? • …
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… and non -coding element activity and function. Genomics of Gene Regulation (GGR) aims to elucidate a network- based understanding of gene regulation. This involves targeted collection of … systematically by the proposed initiative. Genotype Tissue Expression (GTEx) collects gene expression data for ~30 …