Assessing risk for Mendelian disorders in a Bronx population

Guy diSibio, Kinnari Upadhyay, Philip Meyer, Carole Oddoux, Harry Ostrer

Research output: Contribution to journalArticlepeer-review


Background: To identify variants likely responsible for Mendelian disorders among the three major ethnic groups in the Bronx that might be useful to include in genetic screening panels or whole exome sequencing filters and to estimate their likely prevalence in these populations. Methods: Variants from a high-density oligonucleotide screen of 192 members from each of the three ethnic-national populations (African Americans, Puerto Ricans, and Dominicans) were evaluated for overlap with next generation sequencing data. Variants were curated manually for clinical validity and utility using the American College of Medical Genetics (ACMG) scoring system. Additional variants were identified through literature review. Results: A panel of 75 variants displaying autosomal dominant, autosomal recessive, autosomal recessive/digenic recessive, X-linked recessive, and X-linked dominant inheritance patterns representing 39 Mendelian disorders were identified among these populations. Conclusion: Screening for a broader range of disorders could offer the benefits of early or presymptomatic diagnosis and reproductive choice.

Original languageEnglish (US)
Pages (from-to)516-523
Number of pages8
JournalMolecular Genetics and Genomic Medicine
Issue number5
StatePublished - Sep 2017


  • Carrier screening
  • genetic testing
  • variant annotation
  • whole genome sequencing

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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