User profiles for "author:Manuel A Rivas"
Manuel A. RivasAssistant Professor, Department of Biomedical Data Science, Stanford University Verified email at stanford.edu Cited by 60573 |
[HTML][HTML] Opportunities and challenges for transcriptome-wide association studies
Transcriptome-wide association studies (TWAS) integrate genome-wide association studies
(GWAS) and gene expression datasets to identify gene–trait associations. In this …
(GWAS) and gene expression datasets to identify gene–trait associations. In this …
[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans
Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Recent advances in sequencing technology make it possible to comprehensively catalog
genetic variation in population samples, creating a foundation for understanding human …
genetic variation in population samples, creating a foundation for understanding human …
The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …
human disease and quantitative traits, remains a critical challenge for biomedicine. We …
A cross-population atlas of genetic associations for 220 human phenotypes
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …
populations and scope of phenotypes. To expand an atlas of genetic associations in non …
Transcriptome and genome sequencing uncovers functional variation in humans
Genome sequencing projects are discovering millions of genetic variants in humans, and
interpretation of their functional effects is essential for understanding the genetic basis of …
interpretation of their functional effects is essential for understanding the genetic basis of …
The genetic architecture of type 2 diabetes
The genetic architecture of common traits, including the number, frequency, and effect sizes
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …
[HTML][HTML] Landscape of X chromosome inactivation across human tissues
X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes
in female mammalian cells to balance expression dosage between XX females and XY …
in female mammalian cells to balance expression dosage between XX females and XY …
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
MA Rivas, M Beaudoin, A Gardet, C Stevens… - Nature …, 2011 - nature.com
More than 1,000 susceptibility loci have been identified through genome-wide association
studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of …
studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of …
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Myocardial infarction (MI), a leading cause of death around the world, displays a complex
pattern of inheritance,. When MI occurs early in life, genetic inheritance is a major …
pattern of inheritance,. When MI occurs early in life, genetic inheritance is a major …