Purpose Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes
remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving …

Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …

Objective Rare genetic disorders resulting in prenatal or neonatal death are genetically
heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples …

High-throughput sequencing has ushered in a diversity of approaches for identifying genetic
variants and understanding genome structure and function. When applied to individuals with …

In clinical exome sequencing (cES), the American College of Medical Genetics and
Genomics recommends limiting variant interpretation to established human-disease genes …

The translation of “next-generation” sequencing directly to the clinic is still being assessed
but has the potential for genetic diseases to reduce costs, advance accuracy, and point to …

Over the past several years, more focus has been placed on dissecting the genetic basis of
complex diseases and traits through genome-wide association studies. In contrast …

Purpose Clinical exome sequencing is nondiagnostic for about 75% of patients evaluated
for a possible Mendelian disorder. We examined the ability of systematic reevaluation of …

Importance Clinical exome sequencing (CES) is rapidly becoming a common molecular
diagnostic test for individuals with rare genetic disorders. Objective To report on initial …

Recent advances in next-generation sequencing technologies have transformed the
genetics study of human diseases; this is an era of unprecedented productivity. Exome …