Related Experiment Video
Updated: Dec 13, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
GenSeg and MR-GenSeg: A Novel Segmentation Algorithm and its Parallel MapReduce Based Approach for Identifying
Abstract:
Identifying intragenic as well as intergenic sequences of the DNA, having structural alterations, is a significantly important research area, since this may be the root cause of many neurological and autoimmune diseases, including cancer. Working with whole genome NGS data has provided a new insight in this regard, but has lead to huge explosion of data that is growing exponentially. Hence, the challenges lie in efficient means of storage and processing this big data. In this study, we have developed a novel segmentation algorithm, called GenSeg, and its parallel MapReduce based algorithm, called MR-GenSeg, for detecting copy number variations. In order to annotate CNVs (variants), segments formed by GenSeg/MR-GenSeg have been represented in a novel way using a binary tree, where each node is a CNV event. GenSeg considers each position specific data of whole genome DNA sequence, so that precise identification of breakpoints is possible. GenSeg/MR-GenSeg has been compared with twelve popular CNV detection algorithms, where it has outperformed the others in terms of sensitivity, and has achieved a good F-score value. MR-GenSeg has excelled in terms of SpeedUp, when compared with these algorithms. The effect of CNVs on immunoglobulin (IG) genes has also been analysed in this study. Availability: The source codes are available at https://github.com/rituparna-sinha/MapReduce-GENSEG.
Related Concept Videos
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Genome Copying Errors
Sanger Sequencing

