ArticleMolecular genetics & genomic medicine2017
Assessing risk for Mendelian disorders in a Bronx population.
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 0 citations in OpenAlex.
- Assessing risk for Mendelian disorders in a Bronx population.Molecular genetics & genomic medicine · 2017Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundTo 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.
methodsVariants 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.
resultsA 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.
conclusionScreening for a broader range of disorders could offer the benefits of early or presymptomatic diagnosis and reproductive choice.
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