Exome & General Genetics

Session # 590W

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

  • 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

  • Authors: Samin Sajan; Sheila Saliganan; Katherine Helbig; Brady Barrows; Rocio Martinez; Zöe Powis; Rebecca Burns; Luis Rohena; Jamie A. Massie; Elizabeth Spiteri; Wendy Alcaraz
  • Conference: American Society of Human Genetics (ASHG)
  • Date: Wednesday, Oct 18, 2017 3:00pm - 4:00pm

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