Rapid genome sequencing identifies a greater number of unique diagnoses in infants with congenital heart disease compared with chromosomal microarray analyses. Rapid genome sequencing (rGS) identifies ...

Background Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS.

Background Low-pass genome sequencing (LP GS) is an alternative to chromosomal microarray analysis (CMA). However, validations of LP GS as a prenatal diagnostic test for amniotic fluid are rare.

Aging-related cardiovascular diseases are a rapidly increasing problem worldwide. Cardiac aging demonstrates progressive decline of diastolic dysfunction of ventricle and increase in ventricular and ...

Further chromosomal microarray analysis (CMA) was conducted, revealing a pathogenic copy number variation (CNV)—specifically, a deletion at 1q25.3–q32.1 (Chr1:180300001-207100000,hg38) with a ...

A metadata commons to store research software metadata - arash77/research-software-ecosystem-content ...