Sayantan Das

The paper analyzes the impact of CYP2C19 genotype on SSRI side effects and discontinuation rates in a large sample of individuals.

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.

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%.

This study compares polygenic risk scores for Parkinson's disease across seven ancestries, finding varying predictive accuracy and highlighting the need for ancestry-specific models.

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.

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

MUSSEL improves polygenic risk prediction across populations by integrating GWAS summary statistics and using Bayesian hierarchical modeling with ensemble learning.

This paper conducts a multi-ancestry genome-wide meta-analysis of Parkinson's disease, identifying 78 independent loci and 23 genes associated with PD risk.

The paper introduces CT-SLEB, a method for multi-ancestry polygenic prediction that improves performance in non-European populations using GWAS summary statistics and simulation studies.

This study identifies 49 genetic loci associated with sleep apnoea risk using multi-trait GWAS, with 29 replicated in a large cohort, and finds genetic correlations with several complex traits.

The paper reports whole-genome association analyses of sleep-disordered breathing traits in the NHLBI TOPMed program, identifying rare and common variant associations.

This study identifies genetic modifiers of LRRK2 mutations in Parkinson's disease, finding a significant variant in CORO1C and a polygenic risk score effect on penetrance.

Over 400 million variants, 97% below 1% frequency, emerge from deep whole-genome sequencing of 53,831 diverse TOPMed participants; TOPMed haplotypes enable imputation down to ~0.01% frequency.

The paper presents a large ASE resource from GTEx v8 with 431 million SNP-level and 153 million haplotype-level measurements, and extends phASER to estimate cis regulatory variant effect sizes.

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.

The paper examines telomere length variation across 6,391 tissue samples from 952 individuals, showing tissue-specific differences, positive correlations between tissues, and associations with age and ancestry.

Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.

The paper quantifies protein levels across 32 human tissues and compares them to transcriptome data, revealing insights into post-transcriptional regulation and disease mechanisms.

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.

This study constructs and evaluates polygenic risk scores for skin cancer subtypes using the Michigan Genomics Initiative and UK Biobank data, and develops a visual catalog to compare PRS methods.

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.

The paper compares methods for estimating heritability and genetic architecture using whole genome data and finds that larger imputation panels improve accuracy of causal variant frequency estimates.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

The paper constructs a haplotype reference panel for genotype imputation, enabling accurate imputation at low minor allele frequencies and enhancing association studies.