Related Experiment Video
Updated: Jun 12, 2026
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
ParMap, an algorithm for the identification of small genomic insertions and deletions in nextgen sequencing data
Hossein Khiabanian1, Pieter Van Vlierberghe, Teresa Palomero
1Department of Biomedical Informatics, Columbia University College of Physicians and Surgeons, New York, NY, USA. hossein@c2b2.columbia.edu.
Background:
Next-generation sequencing produces high-throughput data, albeit with greater error and shorter reads than traditional Sanger sequencing methods. This complicates the detection of genomic variations, especially, small insertions and deletions.
Findings:
Here we describe ParMap, a statistical algorithm for the identification of complex genetic variants, such as small insertion and deletions, using partially mapped reads in nextgen sequencing data.
Conclusions:
We report ParMap's successful application to the mutation analysis of chromosome X exome-captured leukemia DNA samples.
