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5 papers · 1 filter
Second-generation PLINK: rising to the challenge of larger and richer datasets
Christopher C. Chang, Carson C. Chow, Laurent C. A. M. Tellier +3
PLINK 1 is a widely used open-source C/C++ toolset for genome-wide association studies (GWAS) and research in population genetics. However, the steady accumulation of data from imp…
PhyloPythiaS+: A self-training method for the rapid reconstruction of low-ranking taxonomic bins from metagenomes
I. Gregor, J. Dröge, M. Schirmer +2
Metagenomics is an approach for characterizing environmental microbial communities in situ, it allows their functional and taxonomic characterization and to recover sequences from…
Fast construction of FM-index for long sequence reads
Heng Li
Summary: We present a new method to incrementally construct the FM-index for both short and long sequence reads, up to the size of a genome. It is the first algorithm that can buil…
Towards Better Understanding of Artifacts in Variant Calling from High-Coverage Samples
Heng Li
Motivation: Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased wh…
No evidence that natural selection has been less effective at removing deleterious mutations in Europeans than in West Africans
Ron Do, Daniel Balick, Heng Li +3
Non-African populations have experienced major bottlenecks in the time since their split from West Africans, which has led to the hypothesis that natural selection to remove weakly…