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OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities

  • First Published November 14, 2025
Research

Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T

  • First Published March 17, 2025
Research

Rearrangements of viral and human genomes at human papillomavirus integration events and their allele-specific impacts on cancer genome regulation

  • First Published December 5, 2024
Method

CoRAL accurately resolves extrachromosomal DNA genome structures with long-read sequencing

  • First Published July 9, 2024
Method

Ancestry-agnostic estimation of DNA sample contamination from sequence reads

  • First Published January 24, 2020
Method

Targeted genotyping of variable number tandem repeats with adVNTR

  • First Published October 23, 2018
Method

HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies

  • First Published December 9, 2016
Method

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

  • First Published April 16, 2015
Method

Amplification and thrifty single-molecule sequencing of recurrent somatic structural variations

  • First Published December 4, 2013
Research

The influence of genomic context on mutation patterns in the human genome inferred from rare variants

  • First Published August 29, 2013
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