Concepedia

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

Kazuyoshi Ishigaki, Masato Akiyama, Masahiro Kanai, Atsushi Takahashi, Eiryo Kawakami, Hiroki Sugishita, Saori Sakaue, Nana Matoba, Siew‐Kee Low, Yukinori Okada,

Nature Genetics · 2020 · 588 citations · 52 references

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52

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

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Second-generation PLINK: rising to the challenge of larger and richer datasets

Christopher Chang, Carson C. Chow, Laurent CAM Tellier et al. · GigaScience · 2015 · 14K citations · Full text

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UMAP: Uniform Manifold Approximation and Projection

Leland McInnes, John Healy, Nathaniel Saul et al. · The Journal of Open Source Software · 2018 · 9.6K citations · Full text

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LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

Brendan Bulik‐Sullivan, Po‐Ru Loh, Hilary K. Finucane et al. · Nature Genetics · 2015 · 6.3K citations · Full text

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