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Article

Efficient Detection of Copy Number Mutations in PMS2 Exons with a Close Homolog.

The Journal of molecular diagnostics : JMD - 1 Jul 2018

Herman Daniel S, Smith Christina, Liu Chang, Vaughn Cecily P, Palaniappan Selvi, Pritchard Colin C, Shirts Brian H

Abstract excerpt

Detection of 3' PMS2 copy-number mutations that cause Lynch syndrome is difficult because of highly homologous pseudogenes. To improve the accuracy and efficiency of clinical screening for these mutations, we developed a new method to analyze standard capture-based, next-generation sequencing data to identify deletions and duplications in PMS2 exons 9 to 15. The approach captures sequences using PMS2 targets,...

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Share to DNA Copy Number Variations
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to PMS2 gene

Share to High-Throughput Nucleotide Sequencing

Share to Mismatch Repair Endonuclease PMS2

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Share to Sequence Homology, Nucleic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 29792936
DOI: 10.1016/j.jmoldx.2018.03.010
PMCID: PMC6119818

Genes

PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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