The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell, +5

Bioinformatics

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin, Carrie Davis, Felix Schlesinger, +6

Bioinformatics

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

Aligning sequence reads, clone sequences and assembly con*gs with BWA-MEM

Heng Li

arXiv (Cornell University)

Integrative Clinical Genomics of Advanced Prostate Cancer

Dan R. Robinson, Eliezer M. Van Allen, Yi-Mi Wu, +70

Cell

UrologyGenitourinary CancerMedicineIntegrative Clinical GenomicsCancer Genomics +4

The Molecular Taxonomy of Primary Prostate Cancer

Adam Abeshouse, Jaeil Ahn, Rehan Akbani, +302

Cell

UrologyGenitourinary CancerMedicinePathologyPrimary Prostate Cancer +3

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

Tobias Rausch, Thomas Zichner, Andreas Schlattl, +3

Bioinformatics

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

Kai Ye, Marcel H. Schulz, Quan Long, +2

Bioinformatics

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Andy Rimmer, Hang Phan, Iain Mathieson, +5

Nature Genetics

Long-read SequencingHaplotype DeterminationAllelic VariantSequencingNext-generation Sequencing +12

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research

Zhongwu Lai, Aleksandra Markovets, Miika Ahdesmäki, +7

Nucleic Acids Research

EngineeringGeneticsPathologyGenomicsHigh Throughput Sequencing +18