The rapid development of next-generation sequencing (NGS) technology, including
advances in sequencing chemistry, sequencing technologies, bioinformatics, and data …

Powerful, recent advances in technologies to analyze the genome have had a profound
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …

Long‐read sequencing (LRS) has been around for more than a decade, but widespread
adoption of the technology has been slow due to the perceived high error rates and high …

Importance Although genetic testing is important for bringing precision medicine to children
with epilepsy, it is unclear what genetic testing strategy is best in maximizing diagnostic …

Background Exome sequencing (ES) is a first-tier diagnostic test for many suspected
Mendelian disorders. While it is routine to detect small sequence variants, it is not a standard …

Background: Mutations in the STRC (MIM 606440) gene, inducing DFNB16, are considered
a major cause of mild–moderate autosomal recessive non-syndromic hearing loss …

Structural variation includes a change in copy number, orientation, or location of a part of the
genome. Copy number variants (CNVs) are a common cause of genetic hearing loss …

Background Congenital hearing loss affects approximately 1–2 infants out of every 1000,
with 50% of the cases resulting from genetic factors. Targeted gene panels have been …

Children with bilateral sensorineural hearing loss (SNHL) should undergo a comprehensive
medical evaluation to determine the underlying etiology and help guide treatment and …

Congenital hearing loss has an impact on almost every facet of life. In more than 50% of
cases, a genetic cause can be identified. Currently, extensive genetic testing is available …