Publications
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Filters: Keyword is High-Throughput Nucleotide Sequencing and Author is Jarvik, Gail P [Clear All Filters]
Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 ;17(1):62.
. Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 ;23(10):1838-1846.
. 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.
. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 ;21(9):2135-2144.
. 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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