Mendelian disorder
CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients
Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.
NHGRI to Award $14.3M in Funding for Mendelian Genomics Centers
The National Human Genome Research Institute and the National Cancer Institute also intend to fund the dissemination of genomic resources to the research community.
BillionToOne Taps Eluthia as Exclusive Distributor of NIPT in Certain European Countries
The Unity test enables screening for several autosomal recessive conditions from fetal DNA gathered from maternal blood.
RNA-Seq Data Helps Focus Search for Rare Variants
A new study in Science used allele-specific expression data to find candidate genes that may have contributed to mendelian muscle disease in patients.
In an abstract to be presented at ASHG, Baylor Genetics researchers will discuss how Emedgene's AI-driven platform helped them streamline and standardize sequencing review.