Leslie G. Biesecker

TL;DR: Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA).

TL;DR: It is recommended that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here and encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.

TL;DR: The key challenges of assessing sequence variants in human disease are discussed, integrating both gene-level and variant-level support for causality and guidelines for summarizing confidence in variant pathogenicity are proposed.

TL;DR: In this article, exome sequencing of DNA from biopsy samples obtained from patients with the Proteus syndrome and compared the resultant DNA sequences with those of unaffected tissues obtained from the same patients were performed.

TL;DR: This review provides guidance for clinicians seeking diagnostic confirmation of a disease suspected to be genetic in origin by using clinical genome and exome sequencing for genetic diagnosis.