Bharati Jadhav

Tandem repeat expansions in DAPK1, ANK3, and RPL14 are associated with diverse neurodegenerative diseases

The paper identifies new tandem repeat expansion associations with neurodegenerative diseases using large-scale genomic data from diverse populations.

A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank

The paper genotypes CNVs from genome sequencing read depth in the UK Biobank and identifies 501 CNVs associated with 1,537 traits.

A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank

This study identifies 47 tandem repeat variants associated with 73 traits in 168,554 UK Biobank individuals, highlighting their role in missing heritability.

The GIAB genomic stratifications resource for human reference genomes

The paper introduces genomic stratifications for human reference genomes GRCh37, GRCh38, and T2T-CHM13v2.0 to benchmark variant caller performance in difficult regions.

Increased frequency of repeat expansion mutations across different populations

The paper estimates the frequency of repeat expansion mutations across populations using whole genome sequencing data and finds higher expected prevalence than current reports.

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability

The paper identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability through a phenome-wide association study using DNA methylation profiling and UK Biobank data.

The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data

The paper describes a virtual hackathon event that brought together early career scientists to develop tools for Parkinson's disease research using open science principles.

REViewer: Haplotype-resolved visualization of read alignments in and around tandem repeats

REViewer visualizes sequencing data around long repeat expansions by reconstructing haplotypes and aligning reads, improving the assessment of repeat genotype calls and detecting interruptions.

A phenome-wide association study identifies effects of copy number variation of VNTRs and multicopy genes on multiple human traits

This study identifies 32 traits associated with copy number variation of 38 VNTRs and multicopy genes in a large cohort, suggesting structural variants contribute to missing heritability.

Pervasive cis effects of variation in copy number of large tandem repeats on local epigenetics and gene expression

The paper identifies VNTRs associated with gene expression and DNA methylation, validates their associations, and links them to human phenotypes through GWAS.

A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and novel CGG expansions

The paper surveys rare epigenetic variation in 23,116 human genomes, identifies disease-relevant epivariations, and discovers novel CGG expansions linked to folate-sensitive fragile sites.

Notch Signaling Commits Mesoderm to the Cardiac Lineage

The paper identifies Notch signaling's role in cardiac mesoderm specification, showing it enhances cardiomyocyte differentiation while maintaining an immature state in human pluripotent stem cells.

RNA-Seq in 296 phased trios provides a high resolution map of genomic imprinting

The paper uses RNA-Seq data from 296 family trios to identify genomic imprinting by analyzing allelic expression and parental haplotypes, finding 45 imprinted genes and one novel imprinted transcript.

Identification of rare de novo epigenetic variations in congenital disorders

The paper identifies de novo epigenetic variations in congenital disorders and shows their impact on gene expression and potential diagnostic relevance.