Many genomes have been sequenced to high-quality draft status using Sanger capillary
electrophoresis and/or newer short-read sequence data and whole genome assembly …

New technologies and analysis methods are enabling genomic structural variants (SVs) to
be detected with ever-increasing accuracy, resolution and comprehensiveness. To help …

The fundamental challenge of multi-sample structural variant (SV) analysis such as merging
and benchmarking is identifying when two SVs are the same. Common approaches for …

Hundreds of thousands of human whole genome sequencing (WGS) datasets will be
generated over the next few years. These data are more valuable in aggregate: joint analysis of …

Background As resequencing projects become more prevalent across a larger number of
species, accurate variant identification will further elucidate the nature of genetic diversity and …

Background Characterizing large genomic variants is essential to expanding the research
and clinical applications of genome sequencing. While multiple data types and methods are …

Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF
(COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals …

One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes. …

Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary,
and collaborative in unprecedented ways. Exact disease recognition, an element of …

New technologies and analysis methods are enabling genomic structural variants (SVs) to
be detected with ever-increasing accuracy, resolution, and comprehensiveness. Translating …