Vikas Bansal

Meta-SAIGE improves rare variant meta-analysis by controlling type I error and enhancing computational efficiency, identifying 237 associations across 83 disease phenotypes.

This paper expands genome benchmarking to include difficult-to-map regions using linked and long reads, identifying more false negatives in variant calling.

The paper develops a diploid assembly-based benchmark for variants in the MHC region using HG002 data, identifying 21496 small variants with high concordance to clinical HLA types.

DuploMap improves long-read mapping and variant calling in segmental duplications by using paralogous sequence variants to distinguish alignments.

The paper introduces a low-cost, high-accuracy method for generating long-range sequencing data using short-read NGS systems, enabling de novo genome assembly and haplotype phasing with minimal DNA input.

Longshot accurately calls SNVs in diploid genomes using long-read sequencing, outperforming existing methods and detecting variants in repetitive regions.

SEA provides a web tool for querying and analyzing small RNA expression across ten organisms, including differential expression and classification comparisons.

adVNTR is a method for genotyping Variable Number Tandem Repeats using Hidden Markov Models, applicable to short-read and single molecule sequencing data.

This paper introduces a method for accurate single-cell genome sequencing and haplotyping with low error rates and long haplotype assembly.