Nature Cell Biology · 2019 · 167 citations · 34 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsCongenital MalformationsDevelopmental MutationsGenetic DisordersGenome RearrangementGenomic ImprintingMosaicismChromosomal InversionsCongenital Anomaly MutationsDevelopmental Patterning DefectsGenomic DisordersGenomic RearrangementsMorphogenesis DefectsMosaicism In Neurodevelopmental DisordersPattern Formation Mutations
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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 gapped-read alignment with Bowtie 2
Ben Langmead, Steven L. Salzberg · Nature Methods · 2012 · 61.1K citations
An integrated encyclopedia of DNA elements in the human genome
A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping
Suhas S.P. Rao, Miriam Huntley, Neva C. Durand et al. · Cell · 2014 · 9.9K citations · Full text