The integration of whole genome sequencing (WGS) into all aspects of modern medicine
represents the next step in the evolution of healthcare. Using this technology, scientists and …

African Americans have a significantly higher risk of developing chronic kidney disease,
especially focal segmental glomerulosclerosis-, than European Americans. Two coding …

Motivation Read alignment is an essential first step in the characterization of DNA sequence
variation. The accuracy of variant-calling results depends not only on the quality of read …

Background Low-pass sequencing followed by sequence variant genotype imputation is an
alternative to the routine microarray-based genotyping in cattle. However, the impact of …

Short-and long-read sequencing technologies are routinely used to detect DNA variants,
including SNVs, indels, and structural variations (SVs). However, the differences in the …

High-throughput sequencing and hardware-accelerated computing have both developed
tremendously within the last decade. In genomics, progress is fueled by new technologies …

Background: Oculoauriculovertebral Spectrum (OAVS) encompasses a wide variety of
anomalies on derivatives from the first and second pharyngeal arches including …

Rapid advances in high‐throughput DNA sequencing technologies have enabled large‐
scale whole genome sequencing (WGS) studies. Before performing association analysis …

Many investigations of human disease require model systems such as non-human primates
and their associated genome analyses. While DeepVariant excels in calling human genetic …

Chronic liver disease (CLD) is a major global health problem, leading to an estimatedtwo
million annual deaths worldwide. Advances in next generation sequencing (NGS) …