Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington's disease
Sahar Gelfman, Rujin Wang, Adrián I. Campos…·Giovanni Coppola
Author
Regeneron (United States)ORCID 0000-0001-9816-5847Unclaimed ORCID profile · follow to get notified of new preprints
10 papers
Recent·Most cited
Sahar Gelfman, Rujin Wang, Adrián I. Campos…·Giovanni Coppola
Yuxin Zou, Peter S. Carbonetto, Dongyue Xie…·Matthew Stephens
The paper introduces mvSuSiE, a multi-trait fine-mapping method that improves causal SNP identification by jointly analyzing multiple traits, discovering more causal SNPs and narrower credible sets compared to single-trait approaches.
Andrey Ziyatdinov, Joelle S. Mbatchou, Anthony Marcketta…·Jonathan Marchini
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.
Sheila M. Gaynor, Tyler Joseph, Xiaodong Bai…·Timothy A. Thornton
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.
Fabio Morgante, Peter S. Carbonetto, Gao T. Wang…·Matthew Stephens
The paper introduces a flexible empirical Bayes method for multivariate multiple regression to improve prediction of multi-tissue gene expression from genotypes.
Yuxin Zou, Peter S. Carbonetto, Gao T. Wang, Matthew Stephens
This paper extends the SuSiE model to work with summary data, showing it is competitive with existing methods in speed and accuracy for fine-mapping genetic variants.
Andrey Ziyatdinov, Jason Torres, Jesús Alegre-Díaz…·Roberto Tapia‐Conyer
The paper genotypes and sequences 140,000 adults from the Mexico City Prospective Study, revealing ancestry diversity and developing imputation resources for genetic studies.
Sarah Kim-Hellmuth, François Aguet, Meritxell Oliva…·Abhiram S. Rao
The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.
Lihua Jiang, Meng Wang, Shin Lin…·Leslie H. Sobin
The paper quantifies protein levels across 32 human tissues and compares them to transcriptome data, revealing insights into post-transcriptional regulation and disease mechanisms.
François Aguet, Alvaro Barbeira, Rodrigo Bonazzola…·Tuuli Lappalainen
GTEx v8 maps expression and splicing QTLs in 49 tissues from 838 donors: cis-eQTLs cover 94.7% of protein-coding genes, and cross-tissue QTL sharing mirrors cell-type composition.