A structural variation reference for medical and population genetics | Nature
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Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study - Hao - 2021 - Human Mutation - Wiley Online Library
Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population | Human Genetics
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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project | Nature Communications
An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations | PNAS
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PDF) Genotyping, sequencing and analysis of 140,000 adults from the Mexico City Prospective Study
Exomic variants of an elderly cohort of Brazilians in the ABraOM database - Naslavsky - 2017 - Human Mutation - Wiley Online Library
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Validation of a semiconductor next‐generation sequencing assay for the clinical genetic screening of CFTR - Trujillano - 2015 - Molecular Genetics & Genomic Medicine - Wiley Online Library