Rare genetic disorders collectively impact over 300 million people worldwide, yet around 95% have no specific treatments. For the many rare disorders caused by haploinsufficiency, effective therapies ...

UKBB pVCF to plink pgen conversion. Contribute to chundruv/ukbb_pvcf2pgen development by creating an account on GitHub.

Population-scale whole-genome sequencing data will contain many individual-level genotype errors, even after allele-level quality control (QC). We establish the need for genotype-level QC using UK Bio...

European Journal of Human Genetics - The role of untranslated region variants in Mendelian disease: a review

Here the authors analyze de novo mutations in >10,000 parent-offspring trios and find that ancestry and smoking independently associate with mutation rate, but that common genetic variants likely c...