742 citations
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Showing q-bio.GNShow all
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q-bio.GN2013★ 661 cited
Joint analysis of functional genomic data and genome-wide association studies of 18 human traits
Joseph K. Pickrell
Annotations of gene structures and regulatory elements can inform genome-wide association studies (GWAS). However, choosing the relevant annotations for interpreting an association…
q-bio.GN2013★ 742 cited
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species
Keith R. Bradnam, Joseph N. Fass, Anton Alexandrov +88
Background - The process of generating raw genome sequence data continues to become cheaper, faster, and more accurate. However, assembly of such data into high-quality, finished g…
q-bio.GN2009★ 6 cited
Progressive Mauve: Multiple alignment of genomes with gene flux and rearrangement
Aaron E. Darling, Bob Mau, Nicole T. Perna
Multiple genome alignment remains a challenging problem. Effects of recombination including rearrangement, segmental duplication, gain, and loss can create a mosaic pattern of homo…