Joelle S. Mbatchou

Rare protein-coding variation and the genetic architecture of height in >1.4 million individuals

This study identifies 207 height-associated genes using rare protein-altering variants from over 1.4 million individuals, showing large effect sizes and overlap with Mendelian height syndromes.

Genomic ascertainment of CHEK2-related cancer predisposition

This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.

Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studies

The paper introduces REMETA, a tool for efficiently performing meta-analysis of gene-based tests using summary statistics, demonstrating its application on UK Biobank data.

Variant Classification Using Proteomics-Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target Discovery

The paper improves rare variant association studies by using proteomics-informed large language models, identifying more gene-trait associations than existing methods.

Joint testing of rare variant burden scores using non-negative least squares

The paper introduces SBAT, a method for joint testing of rare variant burden scores, showing it is well calibrated and outperforms existing tests in some scenarios.

JASPER: fast, powerful, multitrait association testing in structured samples gives insight on pleiotropy in gene expression

JASPER improves multitrait genetic association analysis in structured samples, finding more significant gene expression associations and pleiotropic effects.

BRASS: Permutation Methods for Binary Traits in Genetic Association Studies with Structured Samples

BRASS is a permutation method for binary trait association mapping in structured samples, showing better type 1 error control than existing methods in simulations and applications to dog genome-wide association studies.

Rare coding variants in CHRNB2 reduce the likelihood of smoking

The paper identifies rare coding variants in CHRNB2 associated with reduced smoking likelihood and links them to downstream smoking-related phenotypes.

Genotyping, sequencing and analysis of 140,000 adults from the Mexico City Prospective Study

The paper genotypes and sequences 140,000 adults from the Mexico City Prospective Study, revealing ancestry diversity and developing imputation resources for genetic studies.

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

The paper identifies a rare variant that lowers ACE2 expression and reduces COVID-19 risk, and develops a genetic risk score predicting severe disease.

Exome sequencing of 628,388 individuals identifies common and rare variant associations with clonal hematopoiesis phenotypes

This study uses exome sequencing of 628,388 individuals to identify genetic variants associated with clonal hematopoiesis and its health outcomes.

Computationally efficient whole genome regression for quantitative and binary traits

The paper introduces REGENIE, a fast whole genome regression method for quantitative and binary traits, showing computational efficiency and accuracy on UK Biobank data.