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Implementation of standardized variant-calling nomenclature in the age of next-generation sequencing: where do we stand?

作者信息

Eisfeld Ann-Kathrin, Blachly James S, Mrózek Krzysztof, Kohlschmidt Jessica, Walker Christopher J, de la Chapelle Albert, Bloomfield Clara D

机构信息

The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.

Alliance for Clinical Trials in Oncology Statistics and Data Center, The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.

出版信息

Leukemia. 2019 Mar;33(3):809-810. doi: 10.1038/s41375-018-0372-x. Epub 2019 Jan 24.

DOI:10.1038/s41375-018-0372-x
PMID:30679803
Abstract
摘要

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Leukemia. 2018 Dec;32(12):2715. doi: 10.1038/s41375-018-0266-y. Epub 2018 Oct 1.
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NF1 mutations are recurrent in adult acute myeloid leukemia and confer poor outcome.NF1 突变在成人急性髓系白血病中频繁发生,并导致不良预后。
Leukemia. 2018 Dec;32(12):2536-2545. doi: 10.1038/s41375-018-0147-4. Epub 2018 Jun 5.
3
A variant by any name: quantifying annotation discordance across tools and clinical databases.无论名称如何的变体:量化不同工具和临床数据库之间的注释不一致性。
Genome Med. 2017 Jan 26;9(1):7. doi: 10.1186/s13073-016-0396-7.
4
Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer.序列变异描述:HGVS命名法与Mutalyzer
Curr Protoc Hum Genet. 2016 Jul 1;90:7.13.1-7.13.19. doi: 10.1002/cphg.2.
5
The genomic landscape of juvenile myelomonocytic leukemia.青少年粒单核细胞白血病的基因组格局
Nat Genet. 2015 Nov;47(11):1326-1333. doi: 10.1038/ng.3400. Epub 2015 Oct 12.
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Mutational spectrum of myeloid malignancies with inv(3)/t(3;3) reveals a predominant involvement of RAS/RTK signaling pathways.伴有 inv(3)/t(3;3) 的髓系恶性肿瘤的突变谱揭示了 RAS/RTK 信号通路的主要参与。
Blood. 2015 Jan 1;125(1):133-9. doi: 10.1182/blood-2014-07-591461. Epub 2014 Nov 7.
7
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.基因组定位参考:用于报告临床相关序列变异的参考序列。
Nucleic Acids Res. 2014 Jan;42(Database issue):D873-8. doi: 10.1093/nar/gkt1198. Epub 2013 Nov 26.