Rajeeva Musunuri

This paper benchmarks 7 TR genotyping tools using Nanopore long-read data, finding that no single tool is best across all metrics, and that sequence-level accuracy is crucial for clinical and population studies.

This paper presents near-complete, haplotype-resolved assemblies of a pancreatic cancer genome and normal tissue, identifying extensive somatic variants and epigenetic changes in previously excluded regions.

Lancet2 improves somatic variant calling with faster runtime and better performance, especially for InDels, using enhanced methods and machine learning.

The paper benchmarks somatic variant and indel detection at low allele fractions using short- and long-read data, finding sensitivity and precision around 80% at 300x coverage.

The paper uses long-read sequencing on 100 samples from the 1000 Genomes Project to identify structural variants and improve understanding of human genetic variation.

The paper presents a high coverage whole genome sequencing resource of 3,202 samples, including 602 trios, generated from the expanded 1000 Genomes Project.

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.

The paper introduces an updated version of the Lancet somatic variant caller that supports linked-reads sequencing data analysis by integrating barcodes and haplotype read assignments.

Lancet improves somatic variant calling accuracy, especially for indels, using colored DeBruijn graphs and local assembly across synthetic and real whole-genome sequencing data.