Carrier screening can identify people at risk of conceiving pregnancies affected with
inherited genetic disorders or who have a genetic disorder with late or variable onset …

Next-generation sequencing (NGS) has altered clinical genetic testing by widening the
access to molecular diagnosis of genetically determined rare diseases. However, physicians …

Background Several metabolic disorders follow an autosomal recessive inheritance pattern.
Epidemiological information on these disorders is usually limited in developing countries …

Whole-exome DNA sequencing is a rich source of clinically useful information for specialists,
patients, and their families, as well as elucidating the genetic basis of monogenic and …

Purpose This study aimed to screen the genetic etiology for the high-risk families including
those with an adverse pregnancy history, a history of consanguineous marriages, or a …

Dear Editor, Rare diseases comprise a large and diverse group of an estimated 7,000
different conditions that collectively affect millions of people worldwide. We recently studied …

Genomic studies may generate massive amounts of data, bringing interpretation challenges.
Efforts for the differentiation of benign and pathogenic variants gain importance. In this …

Hearing loss (HL) is a common sensory deficit in humans and represents an important
clinical and social burden. We studied whole-genome sequencing data of a cohort of 2,097 …

As doenças raras são um grupo amplo e diverso de entidades clínicas, 80% das quais
apresenta etiologia genética. A elucidação etiológica é fundamental para o manejo clínico …

OBJECTIVE In this study, We have evaluated rare variants in patients with ND that were
negative for a monogenic etiology based on exome sequencing (exome-negative), using the …