Concepedia

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

Siobhan McCarthy, Jesse Gillis, Melissa Kramer, Jayon Lihm, Seungtai Yoon, Yael Berstein, Meeta Mistry, Paul Pavlidis, Richard Solomon, Elena Ghiban,

Molecular Psychiatry · 2014 · 364 citations · 54 references

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54

Molecular cloning: A laboratory manual

Prescott L. Deininger · Analytical Biochemistry · 1990 · 86.2K citations

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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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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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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.7K 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

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