Researchers from the Genomic Answers for Kids (GA4K) project have published a study showing that long-read sequencing technology and machine learning technology could improve the diagnosis of rare pediatric diseases. The GA4K project aims to improve existing clinical genetic diagnostics and establish a database of undiagnosed diseases that researchers can easily access.
At the European Heart Rhythm Association (EHRA) 2022, a document was published with recommendations on which heart disease patients and families should be recommended for genetic testing. This document recommends genetic testing for the four groups of inherited heart diseases.
A study in Nature Cardiovascular Research shows that genetic variants in specific locations of the brain cause cavernous angiomas that lead to strokes and seizures. Although information about the pathogenic variant that causes cavernous angiomas has been known, the reason that only some people with the genetic variant actually develop the disease had not been known until now.
BabySeq, an NGS-based newborn screening program, will recruit more diverse participants through the second phase of its project. Phase 1 started in 2013 and was finished in 2019. Phase 2 of the program will involve the sequencing of 500 patients and their parents through three clinics in the eastern United States, where participants will receive whole-genome sequencing instead of whole-exome sequencing.