Systematic determination of novel variant pathogenicity remains a major challenge, even
when there is an established association between a gene and phenotype. Here we present …

Purpose An efficient framework to identify disease-associated genes is needed to evaluate
genomic data for both individuals with an unknown disease etiology and those undergoing …

Next-generation sequencing advances are rapidly expanding the number of human
mutations to be analyzed for causative roles in genetic disorders. Our Human Protein …

Background Advances in next generation sequencing (NGS) technology have made it
possible to interrogate comprehensively genome-wide genetic variations. However, most …

The American College of Medical Genetics and Genomics (ACMG) recommends that clinical
sequencing laboratories return secondary findings in 56 genes associated with medically …

The potential of genome sequencing (GS), which allows detection of almost all types of
genetic variation across nearly the entire genome of an individual, greatly expands the …

In disease studies, family-based designs have become an attractive approach to analyzing
next-generation sequencing (NGS) data for the identification of rare mutations enriched in …

Background Next generation sequencing (NGS) provides a key technology for deciphering
the genetic underpinnings of human diseases. Typical NGS analyses of a patient depict tens …

Background The widespread clinical application of genome-wide sequencing has resulted
in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of …

The rapid evolution of Next Generation Sequencing technology will soon make it possible to
test patients for genetic disorders at population scale. However, clinical interpretation of …