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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30.
Genet Med. 2023.
PMID: 37534744
ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing.
Kaplun L, Krautz-Peterson G, Neerman N, Stanley C, Hussey S, Folwick M, McGarry A, Weiss S, Kaplun A.
Kaplun L, et al. Among authors: neerman n.
Front Genet. 2023 Apr 21;14:1145285. doi: 10.3389/fgene.2023.1145285. eCollection 2023.
Front Genet. 2023.
PMID: 37152986
Free PMC article.
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A clinically validated whole genome pipeline for structural variant detection and analysis.
Neerman N, Faust G, Meeks N, Modai S, Kalfon L, Falik-Zaccai T, Kaplun A.
Neerman N, et al.
BMC Genomics. 2019 Jul 16;20(Suppl 8):545. doi: 10.1186/s12864-019-5866-z.
BMC Genomics. 2019.
PMID: 31307387
Free PMC article.
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