Concepedia

Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes

Nicola H. Chapman, Alejandro Q. Nato, Raphael Bernier, Katy Ankenman, Harkirat Sohi, Jeff Munson, Ashok Patowary, Marilyn Archer, Sara Jane Webb, Hilary Coon,

Human Genetics · 2015 · 66 citations · 56 references

DOI

Concepts

References

56

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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Gene Ontology: tool for the unification of biology

Michael Ashburner, Catherine A. Ball, Judith A. Blake et al. · Nature Genetics · 2000 · 44.6K 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

, , +17

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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