Exome sequencing strategy is promising for finding novel mutations of human monogenic
disorders. However, pinpointing the casual mutation in a small number of samples is still a …

Abstract Recent advances in Next Generation Sequencing (NGS) technologies have given
an impetus to find causality for rare genetic disorders. Since 2005 and aftermath of the …

Background Dramatic improvements in DNA-sequencing technologies and computational
analyses have led to wide use of whole exome sequencing (WES) to identify the genetic …

The advent of next-generation sequencing technologies has greatly promoted advances in
the study of human diseases at the genomic, transcriptomic, and epigenetic levels. Exome …

Background Much basic research into disease mechanisms has made use of genetic
findings to model and understand aetiology. Broad success has been achieved in finding …

The pace of exome and genome sequencing is accelerating, with the identification of many
new disease-causing mutations in research settings, and it is likely that whole exome or …

Whole exome sequencing (WXS) is widely used to identify causative genetic mutations of
diseases. However, not only have several commercial human exome capture platforms …

Exome sequencing and the genetic basis of complex traits | Nature Genetics Skip to main
content Thank you for visiting nature.com. You are using a browser version with limited support …

Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the
clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases …

BACKGROUND Reporting clinically actionable incidental genetic findings in the course of
clinical exome testing is recommended by the American College of Medical Genetics and …