Comprehensive discovery of structural variation (SV) from whole genome sequencing data
requires multiple detection signals including read-pair, split-read, read-depth and prior …

SpeedSeq is an open-source genome analysis platform that accomplishes alignment, variant
detection and functional annotation of a 50× human genome in 13 h on a low-cost server …

A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

Genomic association studies of common or rare protein-coding variation have established
robust statistical approaches to account for multiple testing. Here we present a comparable …

Deep catalogs of genetic variation from thousands of humans enable the detection of
intraspecies constraint by identifying coding regions with a scarcity of variation. While existing …

Tumor genomes are generally thought to evolve through a gradual accumulation of mutations,
but the observation that extraordinarily complex rearrangements can arise through single …

The integration of genome annotations is critical to the identification of genetic variants that
are relevant to studies of disease or other traits. However, comprehensive variant annotation …

Metastatic breast cancer remains challenging to treat, and most patients ultimately progress
on therapy. This acquired drug resistance is largely due to drug-refractory sub-populations (…

GIGGLE is a genomics search engine that identifies and ranks the significance of genomic
loci shared between query features and thousands of genome interval files. GIGGLE ( https://…

Structural variants (SVs) are a major source of genetic and phenotypic variation, but remain
challenging to accurately type and are hence poorly characterized in most species. We …