Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23265
Abstract: The advent of next‐generation sequencing has dramatically decreased the cost for whole‐genome sequencing and increased the viability for its application in research and clinical care. The Personal Genome Project (PGP) provides unrestricted access to genomes… read more here.
Keywords: personal genome; community; whole genomes; genome ... See more keywords
A method for scoring the cell type-specific impacts of noncoding variants in personal genomes
Sign Up to like & getrecommendations! Published in 2020 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.1922703117
Abstract: Significance Here we use the expression and accessibility data from a diverse set of cell types to learn a model for the dependence of the accessibility of a regulatory element on its DNA sequence and… read more here.
Keywords: noncoding variants; personal genome; accessibility; expression ... See more keywords