Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

Maryam Al-Nabhani, Samiya Al-Rashdi, Fathiya AL-Murshedi, Adila AlKindi, Khalid Al-Thihli, Abeer Al-Saegh, Amna AL-Fataisi, Watfa AL-Moamari, Fahad AL Zadjali, Almundher Al-Maawali*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

49 Citations (Scopus)


Recently, with the advancement in next generation sequencing (NGS) along with the improvement of bioinformatics tools, whole exome sequencing (WES) has become the most efficient diagnostic test for patients with intellectual disability (ID). This study aims to estimate the yield of a reanalysis of ID negative exome cases after data reannotation. Total of 50 data files of exome sequencing, representing 50 samples were collected. The inclusion criteria include ID phenotype, and previous analysis indicated a negative result (no abnormality detected). These files were pre-processed and reannotated using ANNOVAR tool. Prioritized variants in the 50 cases studied were classified into three groups, (1) disease-causative variants (2) possible disease-causing variants and (3) variants in novel genes. Reanalysis resulted in the identification of pathogenic/likely pathogenic variants in six cases (12%). Thirteen cases (26%) were classified as having possible disease-causing variants. Candidate genes requiring future functional studies were detected in seven cases (14%). Improvement in bioinformatics tools, update in the genetic databases and literature, and patients' clinical phenotype update were the main reasons for identification of these variants in this study.

Original languageEnglish
JournalClinical Genetics
Publication statusAccepted/In press - Jan 1 2018


  • diagnostic yield
  • DNAH14
  • DRG1
  • ID
  • LIN7B
  • RIC3
  • SYCL2
  • variant interpretation
  • whole-exome sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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