Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis…
Whole-genome sequencing of 490,640 UK Biobank participants
We integrated deep phenotyping data27 available for most UKB participants and performed genetic association analysis across selected disease…
dpMIG-seq: a game-changer in genetic mapping of tetraploid crops
Polyploid crops, such as blueberries, often exhibit complex inheritance patterns that complicate genetic analysis and hinder breeding efforts.…
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…