Research in our lab is focused on human genetic variation and understanding its role in human disease using high-throughput sequencing technologies. We develop tools for the discovery of DNA sequence variants and identifying disease associated variants. Projects involve development of computational and statistical methods, analysis of data from DNA sequencing technologies and genetic association analysis. Current projects in the lab focus on several related topics:

1. Detection of DNA sequence variants in repetitive regions of the human genome using high-throughput sequencing technologies: Hundreds of duplicated genes are known to be associated with rare and complex human diseases. We are developing methods for the detection of variants in duplicated genes using whole-genome Illumina sequencing as well as single-molecule long read sequencing technologies.

Bakhtiari M, Shleizer-Burko S, Gymrek M, Bansal V, Bafna V. Targeted Genotyping of Variable Number Tandem Repeats with adVNTR. accepted for presentation at RECOMB 2018 and publication in Genome Research

2. Accurate and comprehensive whole-genome haplotyping: We have developed computational methods (HapCUT2) for haplotype assembly using diverse sequencing technologies that provide long-range haplotype information. Current projects include (i) haplotype-informed variant detection using single molecule long read sequencing technologies such as Pacific Biosciences, (ii) methods for haplotype-sensitive de novo assembly of complex regions of the human genome (e.g. HLA, KIR), (iii) using haplotype information to identify novel gene-disease associations in complex diseases and cancer.

Chu WK, Edge P, Lee HS, Bansal V, Bafna V, Huang X, Zhang K. Ultra-Accurate Genome Sequencing And Haplotyping Of Single Human Cells, PNAS, October 2017
Edge P, Bafna V, Bansal V. HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies, Genome Research, Dec 2016. [software link] 

3. Analysis of rare variants identified from large-scale sequencing studies to identify new variants and genes associated with disease (recent focus on type 2 diabetes).

Bansal V, Boehm BO, Darvasi A. Identification of a rare missense mutation in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk of type 2 diabetes in Ashkenazi Jewish, accepted for publication in Diabetologica.