Keren Carss

This study compares clonal haematopoiesis (CH) between admixed Americans and Europeans, finding ancestry-specific genetic factors and lower CH prevalence in admixed populations.

Whole-genome sequencing of 490,640 UK Biobank participants calls SNPs, insertions/deletions, and structural variants and maps binary and quantitative phenotype associations across five ancestry groups.

The paper identifies 53 rare variants and 22 genes associated with telomere length using UK Biobank whole-genome sequences, highlighting their role in clonal haematopoiesis and disease.

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.

This study identifies seven genes associated with heart failure progression using exome sequencing in 8,089 patients and prioritizes them for therapeutic target validation.

The paper identifies rare protein-coding variants influencing plasma protein levels in 50,829 UK Biobank participants using exome-wide association studies.

The paper assesses the contribution of rare-to-common protein-coding variants to metabolic biomarker levels using UK Biobank exome sequences and identifies novel gene-biomarker relationships.

This study uses exome sequencing of 177,882 UK Biobank participants to assess the role of rare variants in 10,533 phenotypes, identifying 911 significant gene-phenotype relationships.

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 a novel de novo missense variant in GABRA2 associated with EIEE and analyzes structural impacts of seven variants across Cys-loop receptors.

The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.

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.