Concepedia

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Julie Hoover‐Fong, Nara Sobreira, Julie A. Jurgens, Peggy Modaff, Ann B. Moser, Ok-Hwa Kim, Tae‐Joon Cho, Sung Yoon Cho, Sang Jin Kim, Dong‐Kyu Jin,

The American Journal of Human Genetics · 2014 · 71 citations · 36 references

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36

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text

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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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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

, , +14

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

Nature · 2012 · 8.2K citations · Full text

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