Papers

Peer-reviewed International journal
Aug 11, 2020

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients.

American journal of medical genetics. Part A
  • Hisato Suzuki
  • ,
  • Mamiko Yamada
  • ,
  • Tomoko Uehara
  • ,
  • Toshiki Takenouchi
  • ,
  • Kenjiro Kosaki

Volume
182
Number
11
First page
2529
Last page
2532
Language
English
Publishing type
Research paper (scientific journal)
DOI
10.1002/ajmg.a.61822

Copy number variants (CNVs) are significant causes of rare and undiagnosed diseases. Parallel detection of single nucleotide variants (SNVs) and CNVs with exome analysis, if feasible, would shorten the diagnostic closure in a timely manner. We validated such "parallel" approach through a cohort study of 791 undiagnosed patients. In addition to routine exome analysis, we applied an innovative algorithm EXCAVATOR2 which enhances sensitivity by paradoxically exploiting read depth data that covers nonexonic regions where baits were not originally intended to hybridize. About 48 patients had copy number variations, 42 deletions, and 6 duplications with a resolution of 0.51-14.7 mega base pairs. Importantly from a clinical standpoint, we identified three patients with "dual diagnosis" due to concurrent pathogenic CNV and SNV. We suggest "hitting two birds with one stone" approach to exome data is an efficient strategy in deciphering undiagnosed patients and may well be considered as a first-tier genetic test.

Link information
DOI
https://doi.org/10.1002/ajmg.a.61822
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/32779332
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7689761
ID information
  • DOI : 10.1002/ajmg.a.61822
  • Pubmed ID : 32779332
  • Pubmed Central ID : PMC7689761

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