Shweta Ramdas

The paper catalogs mobile element insertions in 82 Indian populations, revealing population-specific variants not present in European databases and highlighting their potential impact on disease associations.

The paper performs whole-genome sequencing on Parkinson's Disease cases in India to identify novel pathogenic variants and quantify polygenic risk.

The paper investigates the relationship between mtDNA copy number and gene expression, finding they are largely decoupled and that mtDNA accessibility, not copy number, better explains expression variation.

The paper examines APOE ε4 allele frequencies across 9,524 individuals from 83 Indian populations, revealing significant variation and associations with lipid phenotypes.

The paper presents a comprehensive genomic atlas of Indian populations, identifying novel variants and highlighting genetic diversity and pharmacogenomic implications.

The paper integrates chromatin accessibility data with GWAS to identify regulatory mechanisms underlying blood lipid traits, finding 20% of signals lack proposed mechanisms.

ANOMALY identifies NuMTs from long-read sequencing data with high accuracy, demonstrating the advantages of long-read over short-read data for resolving complex NuMTs.

This paper introduces SVD-FCGR, an alignment-free phylogenetic analysis method using SVD on FCGR, showing improved resolution and scalability over MEGA for viral datasets.

This study maps expression and splicing QTLs in East Africans and finds population-specific genetic variation related to immunity, metabolism, and pigmentation.

This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

This paper introduces an algorithm called thread to reconstruct ancestral haplotypes in endogamous populations using pedigree and genotype data, finding it can reconstruct 79% of haplotypes for 224 ancestral individuals per chromosome.

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

The paper identifies regions of potential mis-assembly in the rat reference genome using whole-genome sequencing data from eight inbred strains.

The paper identifies Shh responsive genes and regulatory sequences involved in cochlear morphogenesis using genomic approaches.

The paper develops a theoretical framework and simulations to evaluate the statistical power of detecting copy number alterations in mixed DNA sequencing samples, considering factors like sequencing depth, CNA length, and mixing ratio.