What is it about?
Brazilians are highly admixed, with parental populations from most continents. So far, they were underrepresented in public genomic databases. In addition to that, population-representative elderly that carry mutations suspected to be pathogenic, may provide an insight about their true effect.
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Why is it important?
This is the largest database with genomic variants of Brazilians available online and provides a tool for variant pathogenicity interpretation
Perspectives
This an important step to understanding how high effect monogenic inherited pathogenic variants can be present in healthy elderly, and its interaction with genomic segments from various populations.
Michel Naslavsky
Read the Original
This page is a summary of: Exomic variants of an elderly cohort of Brazilians in the ABraOM database, Human Mutation, May 2017, Wiley,
DOI: 10.1002/humu.23220.
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