Karyn Mégy

This study identifies 26,963 individuals with clonal haematopoiesis without known genetic drivers (CH-UD) and finds strong genetic and phenotypic links to other forms of clonal haematopoiesis, implicating TCL1A and epigenetic changes.

This study uses genome sequencing to identify causal variants in families with neurodevelopmental disorders, finding 36% of affected individuals have causal variants and 26% have variants of uncertain significance.

The paper calculates polygenic risk scores for a family using whole genome sequencing and 1000 Genomes Project data to demonstrate individual-level PRS implementation.

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

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.

This study identifies genes associated with bendiocarb resistance in Ugandan Culex quinquefasciatus mosquitoes through transcriptomic analysis.

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

The paper reports a diagnostic HTS test for bleeding, thrombotic, and platelet disorders, identifying molecular diagnoses in 897 out of 2,390 patients.

The paper identifies complex structural variants in Mendelian disorders using short-read and long-read sequencing, showing their clinical significance and the utility of long-read technology for resolution.