Mendelian disorder
Penetrance of Mendelian Disease Variants Ranges in Heterozygous Carriers
Using exome sequence data from the UK Biobank, researchers uncovered recessive Mendelian disease-linked variants with modest effects when found in a heterozygous state.
Study Finds Copy Number Variant Ties to Complex Human Traits
Data for 331,522 UK Biobank participants helped link CNVs to dozens of complex human traits and uncover pleiotropic, heterogeneous, and polygenic CNV effects.
UK Biobank Study Investigates Incomplete Penetrance of Mendelian Disease Variants
The study, presented at the virtual ASHG annual meeting this week, analyzed phenotypes in carriers of different recessive Mendelian diseases.
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.