Nature Genetics · 2016 · 454 citations · 28 references
Life SciencesGeneticsMolecular BiologyGene ExpressionGenomicsMedical GeneticsDna SequencingGenome SequencingGenomic ProfilingNext-generation SequencingClinical Genomic DiagnosticsMaternal Plasma Dna SequencingPlasma GenotypingWhole Genome Sequencing StudiesWhole-genome Sequencing Analysis
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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
An integrated encyclopedia of DNA elements in the human genome
Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies
Chetan Bettegowda, Mark Sausen, Rebecca Leary et al. · Science Translational Medicine · 2014 · 5.1K citations · Full text