Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin

Bioinformatics

A global reference for human genetic variation

Nature

Human VariationNatural SciencesGeneticsEvolutionary BiologyGlobal Reference +4

Fast and accurate long-read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin

Bioinformatics

Abstract MotivationGeneticsMolecular BiologyGenomicsSequence Alignment +15

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin, +15

Nature Genetics

Dna SequencingSequencingMedicineGeneticsComputational Genomics +12

Signatures of mutational processes in human cancer

Nature

Somatic VariantTumor HeterogeneityMutational ProcessesCancer GeneticsMedicine +4

The repertoire of mutational signatures in human cancer

Ludmil B. Alexandrov, Jaegil Kim, Nicholas J. Haradhvala, +1

Nature

Oncogenic Signaling Pathways in The Cancer Genome Atlas

Francisco Sánchez-Vega, Marco Mina, Joshua Armenia, +44

Cell

Genomic Classification of Cutaneous Melanoma

Rehan Akbani, Kadir C. Akdemir, Bülent Arman Aksoy, +340

Cell

Dermoscopic ImageSkin CancerMedicineMelanomaPathology +6

Integrated Genomic Characterization of Papillary Thyroid Carcinoma

Nishant Agrawal, Rehan Akbani, Bülent Arman Aksoy, +233

Cell

DELLY: structural variant discovery by integrated paired-end and split-read analysis

Tobias Rausch, Thomas Zichner, Andreas Schlattl, +3

Bioinformatics