A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing.

ABSTRACT: Genetic studies performed in consanguineous couples suggest that the reproductive risk that distinguish them from other couples in the general population is related to autosomal recessive (AR) diseases. This risk is scattered among the thousands of known and potential AR diseases. Thus, for effective preconceptional screening of consanguineous couples it is necessary a test that encompasses the largest number of genes possible. For that reason, we decided to create a protocol based on whole exome sequencing (WES). We sequenced completely the exomes of 39 consanguineous couples at high coverage (∼100×). Applying bioinformatics filters, we could detect genetic variants that were simultaneously present in both members of the couple in all genes listed in the Clinical Genomics Database as caus

SUBMITTER: Dos Santos CMA 

PROVIDER: S-EPMC8573158 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature