Nature Genetics · 2014 · 293 citations · 19 references
MedicineGeneticsMolecular GeneticsHepatologyMedical GeneticsBiliary Tract DiseaseChronic Liver DiseaseCirrhosisGenetic DisordersHepatic PathophysiologyLiver DiseaseGenetic Cholestatic 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
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
Origins and functional impact of copy number variation in the human genome
Donald F. Conrad, Dalila Pinto, Richard Redon et al. · Nature · 2009 · 2.1K citations
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
William McLaren, Bethan Pritchard, Daniel Ríos et al. · Bioinformatics · 2010 · 1.7K citations · Full text