Nature

Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability

This cohort study focused on children with unexplained ID who visited the child development and medical genetics clinic of a tertiary medical center between September 2020 and February 2023 for ...
Nature

Collaborative efforts to improve genetic testing in the neonatal intensive care unit

This quality improvement study investigated the effect of collaborative efforts between the NICU, cytogenetics, and clinical genetics on numbers of genetic tests, rates of abnormal tests, and number ...
Medscape

New Gene Test Better at Detecting Autism Than Standard Genetic Testing

March 16, 2010 (Updated March 18, 2010) — Chromosomal microarray analysis (CMA) is at least 3 times more effective at identifying genetic abnormalities in autism spectrum disorder (ASD) than other ...
EurekAlert!

Genomic insights for prenatal screening - The advantages of low-pass genome sequencing

Depth evaluation of LP GS. (A) Total detection sensitivity of LP GS for 155 CNVs. The dotted green line shows the optimal UAHRs (25 M). (B)Evaluation of the performance of LP GS using samples with 25 ...