Hana Lango Allen

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

The paper identifies missing variants in the UK Biobank exome data due to incorrect read alignment and shows they can be recovered by adjusting alignment parameters.

The paper predicts clinically relevant variants in RAG1 and RAG2 by analyzing mutation rates and residue frequencies to identify disease-causing mutations.

The paper introduces a diagnostic gene panel called GRID for primary immunodeficiencies, showing high sensitivity and specificity in identifying genetic variants across 279 genes.