Christopher J. Penkett

This study assesses cross-neutralisation of sarbecoviruses by COVID-19 vaccines in older adults, finding reduced neutralisation of Omicron variants and some animal sarbecoviruses but enhanced neutralisation of specific bat and pangolin coronaviruses.

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 analyzes ACE2 gene variants in a diverse UK cohort to assess their association with SARS-CoV-2 infection risk and severity, identifying variants that affect ACE2 expression and viral receptor affinity.

This study identifies two new PAH risk genes, FBLN2 and PDGFD, through rare variant analysis of 4,241 PAH cases, with de novo variants contributing to ~15% of pediatric IPAH.

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.

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.

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.