Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

Clinical exome sequencing (CES) is rapidly becoming the diagnostic test of choice in patients with suspected Mendelian diseases especially those that are heterogeneous in etiology and clinical presentation. Reporting large CES series can inform guidelines on best practices for test utilization, and improves accuracy of variant interpretation through clinically‐oriented data sharing.

• Publication year

  2019

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2019-03-27

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/ajmg.a.61126PMID 30919572PMCID 6916397
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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