Rohan V. Patel

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

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

FISHnet detects chromatin domains in single-cell sequential Oligopaints imaging data using graph theory and network modularity optimization.

The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.

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%.

The paper uses linked-read sequencing to phase alleles in 477 CF patients, revealing haplotypes that explain disease mechanisms and contribute to understanding complex traits.

The paper shows that Tf2 retrotransposons in fission yeast provide a fitness benefit by modulating the host's transcriptional response to metabolic stress.