Tyler Joseph

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.

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.

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.

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.

The paper compares the effectiveness of whole genome sequencing, whole exome sequencing with imputation, and array genotyping in detecting genetic associations across 100 complex traits in the UK Biobank, finding that WES+IMP provides similar signal yield to WGS with greater efficiency.

This paper presents the largest catalog of human protein-coding variation from 985,830 individuals, identifying rare variants and their functional implications for precision medicine.

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

This study identifies differences in proteostasis and splicing between ALS-resistant cranial motor neurons and ALS-sensitive spinal motor neurons derived from iPSCs.

The paper introduces CoPTR, a tool for computing peak-to-trough ratios from metagenomic data, showing it is more accurate and provides more estimates than existing methods, and demonstrates its application in a case-control study of irritable bowel disease.

LUMINATE infers microbial trajectories from longitudinal count data, offering faster and more accurate results than existing methods while distinguishing biological and technical zeros.

This study uses ancient DNA to trace Sardinia's population history from the Neolithic to the present, finding genetic continuity and limited Bronze Age Steppe ancestry.