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Clinical exome sequencing identifies a homozygous whole-gene deletion of DPY19L2 that was not detected by a high-density single nucleotide polymorphism (SNP) array

Clinical Genomics

Session:

#590

Date:

Wednesday, Oct 18, 2017 3:00pm – 4:00pm

Conference:

Authors:

Brady Barrows, Elizabeth Spiteri, Jamie A. Massie, Katherine Helbig, Luis Rohena, Rebecca Burns, Rocio Martinez, Samin Sajan, Sheila Saliganan, Wendy Alcaraz, Zöe Powis

SNP array testing costs less than, and is usually done prior to exome sequencing to detect pathogenic copy number variations (CNVs). However, SNP arrays can sometimes miss large CNVs due to poor probe coverage
An adult male with globozoospermia (male infertility) had previous negative SNP array test results and subsequently underwent exome sequencing which identified a homozygous whole-gene deletion of DPY19L2 which is the cause of his infertility
This demonstrates that exome sequencing can detect large CNVs missed by SNP arrays and that some regions of the genome known to harbor pathogenic CNVs may need to be better represented on SNP arrays

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