Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …

PURPOSE Accurate genotyping of individuals with inherited retinal diseases (IRD) is
essential for patient management and identifying suitable candidates for gene therapies …

Carrier screening began 50 years ago with screening for conditions that have a high
prevalence in defined racial/ethnic groups (eg, Tay–Sachs disease in the Ashkenazi Jewish …

Purpose Several professional societies have published guidelines for the clinical
interpretation of somatic variants, which specifically address diagnostic, prognostic, and …

While many genetic diseases have effective treatments, they frequently progress rapidly to
severe morbidity or mortality if those treatments are not implemented immediately. Since …

Victor McKusick's many contributions to medicine are legendary, but his magnum opus is
Mendelian Inheritance in Man (MIM), his catalog of Mendelian phenotypes and their …

Advancements in sequencing technologies and assembly methods enable the regular
production of high-quality genome assemblies characterizing complex regions. However …

Colorectal cancer (CRC) is the fourth most frequently diagnosed cancer and 30% of all
cases of CRC are believed to have a familial component and up to one-third of these (10%) …

Serum tryptase is a biomarker used to aid in the identification of certain myeloid neoplasms,
most notably systemic mastocytosis, where basal serum tryptase (BST) levels> 20 ng/mL are …

Rare genetic disorders, while individually rare, are collectively common. They represent
some of the most severe disorders affecting patients worldwide with significant morbidity and …