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Article

A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders.

American journal of medical genetics. Part A - 1 Feb 2022

Yamada Mamiko, Suzuki Hisato, Shima Taiki, Uehara Tomoko, Kosaki Kenjiro

Abstract excerpt

For the efficient diagnosis of rare and undiagnosed diseases, the parallel detection of copy number variants (CNVs) and single nucleotide variants using exome analysis is required. Recently, our group reported the usefulness of a program called EXCAVATOR2, which screens for CNVs from aligned exome data in bam format. This method is expected to contribute to the identification of structural variants and to improve...

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PMID: 34622574
DOI: 10.1002/ajmg.a.62535

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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