An optimizedBRCA1/2next-generation sequencing for different clinical sample types Article Swipe

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Yoonjung Kim , Chi‐Heum Cho , Jung‐Sook Ha , Do‐Hoon Kim , Sun Young Kwon , Seoung Chul Oh , Kyung‐A Lee ·

YOU? · · 2019 · Open Access · · DOI: https://doi.org/10.3802/jgo.2020.31.e9

On the comparison of the analytical performance according to different sample types, the buffy coat was not affected by sequencing artifacts and VAF shifted variants. Therefore, the blood test should be given priority in detecting germline BRCA1/2 mutation, and tumor materials could be suitable to detect somatic mutations in OC patients without identifying germline BRCA1/2 mutation.

Related Topics

Medicine

Germline

Mutation

Computational Biology

Biology

Immunology

Concepts

Buffy coat Medicine Germline Germline mutation Mutation Computational biology Genetics Biology Immunology Gene

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Type: article
Language: en
Landing Page: https://doi.org/10.3802/jgo.2020.31.e9
PDF: http://ejgo.org/Synapse/Data/PDFData/1114JGO/jgo-31-e9.pdf
OA Status: diamond
Cited By: 4
References: 41
Related Works: 10
OpenAlex ID: https://openalex.org/W2968860935

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OpenAlex ID: https://openalex.org/W2968860935

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DOI: https://doi.org/10.3802/jgo.2020.31.e9

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Title: An optimizedBRCA1/2next-generation sequencing for different clinical sample types

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Type: article

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Language: en

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Publication year: 2019

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Publication date: 2019-08-14

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Authors: Yoonjung Kim, Chi‐Heum Cho, Jung‐Sook Ha, Do‐Hoon Kim, Sun Young Kwon, Seoung Chul Oh, Kyung‐A Lee

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Landing page: https://doi.org/10.3802/jgo.2020.31.e9

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Concepts: Buffy coat, Medicine, Germline, Germline mutation, Mutation, Computational biology, Genetics, Biology, Immunology, Gene

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Cited by: 4

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Citations by year (recent): 2025: 1, 2023: 1, 2022: 1, 2021: 1

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References (count): 41

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