Mendelian disorder
Developmental Disorder Study Reveals Recessive Genetic Contributors in Diverse Populations
Researchers explored the genetics of autosomal recessive developmental disorders in two large, diverse cohorts, linking some 84 percent of cases to known disease genes.
APOE4 Homozygosity Constitutes Genetic Form of Alzheimer's Disease, Study Suggests
Previously, having two copies of the APOE4 allele was merely regarded as raising the risk of developing Alzheimer's disease, not causative.
At the American College of Medical Genetics and Genomics annual meeting, members of two working groups provided an early look at new versions of the existing standards.
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.