This study finds that higher polygenic risk scores for breast cancer are associated with longer survival in patients, suggesting a link between genetic predisposition and less aggressive tumors.

BMC Cancer · Aug 28, 2025Peer-reviewedGenetic & Genomic Medicine

Multivariate genome-wide association analysis of quantitative reading skill and dyslexia improves gene discovery

Hayley S. Mountford, Else Eising, Pierre Fontanillas, Adam Auton, Stella W. Aslibekyan, Robert K. Bell, Katelyn Kukar Bond, Zayn Cochinwala, Sayantan Das, Kahsaia de Brito, Emily DelloRusso, Chris Q. Eijsbouts, Sarah L. Elson, Chris German, Julie M. Granka, , Michelle Luciano A

This study uses a multivariate GWAS approach to identify genetic loci associated with reading ability and dyslexia, finding 35 new genome-wide significant loci and estimating SNP heritability at 24%.

Translational Psychiatry · Aug 18, 2025Peer-reviewedGenetic & Genomic Medicine

Bidirectional relationship between olfaction and Parkinson's disease

Jonggeol Jeffrey Kim, Sara Bandrés‐Ciga, Karl Heilbron, Stella W. Aslibekyan, Adam Auton, Elizabeth Babalola, Robert K. Bell, Jessica Bielenberg, Jonathan Bowes, Katarzyna Bryc, Ninad S. Chaudhary, Daniella Coker, Sayantan Das, Emily DelloRusso, Sarah L. Elson, , Alastair John Noyce

This study identifies genetic correlations between hyposmia and Parkinson's disease, finding a strong causal link from PD to hyposmia but weaker evidence for the reverse.

npj Parkinson s Disease · Dec 5, 2024Peer-reviewedGenetic & Genomic Medicine

The shared genetic architecture and evolution of human language and musical rhythm

Gökberk Alagöz, Else Eising, Yasmina Mekki, Giacomo Bignardi, Pierre Fontanillas, Stella W. Aslibekyan, Adam Auton, Elizabeth Babalola, Robert K. Bell, Jessica Bielenberg, Jonathan Bowes, Katarzyna Bryc, Ninad S. Chaudhary, Daniella Coker, Sayantan Das, , Reyna L. Gordon

This study investigates the shared genetic architecture between rhythm and dyslexia using large-scale genome-wide association studies.

Nature Human Behaviour · Nov 21, 2024Peer-reviewedGenomics

Polymorphic SNPs, short tandem repeats and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains

Milad Mortazavi, Yangsu Ren, Shubham Saini, Danny Antaki, Celine L. St. Pierre, April E. Williams, Abhishek Sohni, Miles Wilkinson, Melissa Gymrek, Jonathan L. Sebat, Abraham A. Palmer

The paper identifies genetic variants responsible for gene expression differences between C57BL/6 and C57BL/10 mouse substrains.

Cell Genomics · Mar 1, 2022Peer-reviewedGenomics

TRTools: a toolkit for genome-wide analysis of tandem repeats

Nima Mousavi, Jonathan Margoliash, Neha Pusarla, Shubham Saini, Richard Yanicky, Melissa Gymrek

TRTools provides a Python library and command-line tools for filtering, merging, and quality control of tandem repeat genotype files, with compatibility across TR genotypers.

Bioinformatics · Aug 12, 2020Peer-reviewedBioinformatics

Multi-tissue analysis reveals short tandem repeats as ubiquitous regulators of gene expression and complex traits

Stephanie Feudjio Feupe, Jonathan Margoliash, Catherine Wang, Shubham Saini, Richard Yanicky, Sharona Shleizer-Burko, Alon Goren, Melissa Gymrek

The paper identifies over 28,000 STRs associated with gene expression across 17 tissues and links them to complex traits like height and schizophrenia.

bioRxiv · Aug 9, 2019 · PreprintGenomics

A reference haplotype panel for genome-wide imputation of short tandem repeats

Shubham Saini, Ileena Mitra, Nima Mousavi, Stephanie Feudjio Feupe, Melissa Gymrek

The paper creates a reference haplotype panel for imputing STRs from SNP data, showing high concordance and increased power for STR association studies.

Nature Communications · Oct 17, 2018Peer-reviewedGenomics