Nature Genetics · 2012 · 753 citations · 43 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPediatric GeneticsDevelopmental MutationsGenetic DisordersGenetic SyndromesNeurogenetic DisordersRare Disease GeneticsRare Disease GenomicsPhosphatidylinositol 3-Kinase PathwayPi3k SignalingPi3k-akt Signaling PathwayPik3ca MutationsPostzygotic Mutation
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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
Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K 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
A map of human genome variation from population-scale sequencing
Comprehensive genomic characterization defines human glioblastoma genes and core pathways