Publications
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Filters: Author is Biesecker, Leslie G and Keyword is High-Throughput Nucleotide Sequencing [Clear All Filters]
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. Am J Hum Genet. 2020 ;107(5):932-941.
. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell. 2019 ;177(1):32-37.
. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med. 2018 ;20(8):855-866.
. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 ;98(6):1051-1066.
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