Categoría: The American Journal of Human Genetics
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Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes
This study provides a comprehensive catalog of expression, splicing, and alternative polyadenylation QTLs in gastric tissues from Chinese individuals. Integration with gastric cancer GWAS data identified 34 susceptibility genes. Functional experiments …
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Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome
Genetic variants can regulate many aspects of transcription, any of which could influence complex traits. We developed LaDDR, a method for generating latent data-driven RNA phenotypes from RNA sequencing read coverage. LaDDR substantially increases dis…
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Genome-wide association study and predictors of neonatal blood cell traits in Hispanic newborns
We identified six genetic loci associated with neonatal lymphocyte-related traits through GWAS in 382 Hispanic cord blood samples and found that delivery mode and biological sex shaped immune cell composition at birth. Our findings reveal early-life re…
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Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans
Using cross-ancestry fine-mapping across global and local ancestry groups, this study dissects the 9p21.3 coronary artery disease locus and shows how ancestry-specific haplotype structure shapes association signals, offering insight into why a major ca…
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Genome-wide association study and predictors of neonatal blood cell traits in Hispanic newborns
We identified six genetic loci associated with neonatal lymphocyte-related traits through GWAS in 382 Hispanic cord blood samples and found that delivery mode and biological sex shaped immune cell composition at birth. Our findings reveal early-life re…
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Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans
Using cross-ancestry fine-mapping across global and local ancestry groups, this study dissects the 9p21.3 coronary artery disease locus and shows how ancestry-specific haplotype structure shapes association signals, offering insight into why a major ca…
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Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity
Genomic instability scores for HRD in high-grade ovarian cancer provide robust evidence for BRCA1 and BRCA2 variant classification according to ACMG/AMP criteria. Analysis of 4,943 tumors resulted in an evidence strengh of supporting pathogenic for HRD…
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Deciding “what” to screen for and “when”: The importance of natural history information
Natural history and age-of-onset data are critical for understanding the penetrance, expressivity, and progression of rare monogenic conditions. This perspective discusses challenges in defining and curating these data and considers how they may inform…
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Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity
Genomic instability scores for HRD in high-grade ovarian cancer provide robust evidence for BRCA1 and BRCA2 variant classification according to ACMG/AMP criteria. Analysis of 4,943 tumors resulted in an evidence strengh of supporting pathogenic for HRD…
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Deciding “what” to screen for and “when”: The importance of natural history information
Natural history and age-of-onset data are critical for understanding the penetrance, expressivity, and progression of rare monogenic conditions. This perspective discusses challenges in defining and curating these data and considers how they may inform…