genotyping arrays
SUPER Psychosis Study Presented at ASHG Digs Into Relationships of Rare Variants, Phenotypes
Using sequence data for tens of thousands of psychotic disease cases and controls, researchers have begun unearthing specific phenotypes linked to rare variants.
Consortium Catalogs Variants Affecting Blood Gene Expression
Members of the eQTLGen Consortium turned to data for almost 31,700 individuals to define local and distant expression quantitative trait loci affecting gene expression in the blood.
Study Spells Out Separate Parental, Fetal Genome Contributions to Fetal Growth
With the help of phased Icelandic genomes, researchers found fetal growth-associated variants in maternal, paternal, and fetal genomes, including some with opposite effects on growth.
Glaucoma Polygenic Risk Score Appears Similarly Informative to Monogenic Risk Assessment
An elevated PRS appeared to confer roughly the same risk of glaucoma as a rare monogenic MYOC gene variant, though high scores turn up more often in the general population.
COVID-19 Susceptibility, Severity Loci Reported by International Team
Using data for almost 50,000 COVID-19 cases and some 2 million controls, researchers found 13 loci linked to SARS-CoV-2 infection susceptibility or disease severity.