Concepedia

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

Carlo Sidore, Fabio Busonero, Andrea Maschio, Eleonora Porcu, Silvia Naitza, Magdalena Żołędziewska, Antonella Mulas, Giorgio Pistis, Maristella Steri, Fabrice Danjou,

Nature Genetics · 2015 · 413 citations · 71 references

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71

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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Fast and accurate long-read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K citations · Full text

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An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.2K citations · Full text

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dbSNP: the NCBI database of genetic variation

Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.8K citations · Full text

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A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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