Journal of Human Genetics · 2015 · 30 citations · 11 references
Life SciencesGeneticsNeurologyHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersGenetic SyndromesRare Disease GeneticsKlippel-feil SyndromeNeuromuscular Genetic Disorders
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The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
Fast and accurate short read alignment with Burrows–Wheeler transform
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BEDTools: a flexible suite of utilities for comparing genomic features
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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
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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