Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings

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

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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

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Clustal W and Clustal X version 2.0

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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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