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Exome variant discrepancies due to reference-genome differences.
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Exome variant discrepancies due to reference-genome differences.
Exome variant discrepancies due to reference-genome differences. Am J Hum Genet. 2021 07 01; 108(7):1239-1250.
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PubMed
subject areas
Cohort Studies
Exome
Genetic Diseases, Inborn
Genome, Human
Humans
Polymorphism, Single Nucleotide
Reference Values
authors with profiles
ANIKO SABO
RICHARD GIBBS
JAMES LUPSKI
JENNIFER POSEY
ERIC VENNER
Moez Dawood