Sairam Behera

The paper analyzes genetic variation, ancestry, and DNA methylation in Hispanic/Latino participants using long-read sequencing, identifying novel variants and phenotype associations.

The paper introduces DRAGEN, a scalable mosaic variant caller that detects low VAF variants with high accuracy and efficiency, and presents a benchmark for low-VAF variants.

The paper describes a comprehensive genomic dataset from a tumor-normal pair with broad consent, generated using multiple sequencing technologies for benchmarking somatic variant detection.

The paper introduces a CN caller for KIV-2 repeats using short reads, showing high accuracy and demonstrating its correlation with Lp(a) levels and population-specific CN distributions.

The paper compares single-cell whole genome amplification methods and reference genomes for detecting somatic copy number variants in human brain tissue.

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

Sniffles2 improves SV detection accuracy and speed, enabling mosaic and population-level SV calling with applications in neurological disorders.

DRAGEN provides fast and accurate genome analysis across 3,202 genomes, outperforming existing methods in variant detection speed and accuracy for various types including SNV, indel, STR, SV, and CNV.

The paper introduces a pangenome research toolkit to analyze complex genomic variations across multiple scales, improving the interpretation of repetitive and clinically relevant genes.

This paper develops a scalable protocol for Oxford Nanopore long-read sequencing, achieving high SNP and structural variant detection with haplotype-resolved methylation calls, suitable for large-scale genomics projects.

The paper introduces FixItFelix and a modified GRCh38 reference to improve variant calling and expression analysis in genes with reference errors, showing benefits across multiple sequencing types and populations.

The paper uses a pan-genome graph approach to identify variation within the KIV-2 tandem repeats of the LPA gene across 47 haplotype-resolved assemblies.

The paper introduces ConSemble, a consensus-based ensemble method for transcriptome assembly that improves accuracy by combining multiple assemblers, outperforming individual methods in both de novo and genome-guided scenarios.

STAG-CNS identifies short conserved non-coding sequences across multiple species by integrating promoter data, revealing their association with transcriptional regulation and expression context.