Delnaz Roshandel

GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations

GWAS SVatalog identifies structural variations linked to GWAS loci by visualizing LD between SVs and SNPs across 14,479 phenotypes.

Beyond reference bias: Making pangenomes accessible with PangyPlot

PangyPlot is a genome browser that simplifies exploration of pangenome graphs, enabling visualization of genetic variation in populations with diverse haplotypes.

RegionScan: A comprehensive R package for region-level genome-wide association testing with integration and visualization of multiple-variant and single-variant hypothesis testing

RegionScan provides an R package for region-level genome-wide association testing and visualization, supporting multiple-variant and single-variant hypothesis testing with LD-adaptive region definition.

Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder

This study performs an X chromosome-wide association study (XWAS) in ASD, identifying 59 variants associated with ASD, including novel candidate genes like FGF13.

Sex-stratified GWAS of Body Fat Percentage after Adjusting for Testosterone and SHBG in the UK Biobank

This study performs sex-stratified GWAS of body fat percentage in the UK Biobank, adjusting for testosterone and SHBG, and identifies new loci with limited genetic overlap between males and females.

Genomic architecture of autism spectrum disorder from comprehensive whole-genome sequence annotation

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

This study identifies genetic loci associated with impulsivity in juvenile myoclonic epilepsy and links them to synaptic assembly genes and SLCO5A1 function.

A cystic fibrosis lung disease modifier locus harbors tandem repeats associated with gene expression

The paper identifies VNTRs near SLC9A3 associated with gene expression in CF nasal epithelia and shows their utility in explaining GWAS signals.

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.