Case report: A case study of variant calling pipeline selection effect on the molecular diagnostics outcome

Next-generation sequencing technologies have not only defined a breakthrough in medical genetics, but also been able to enter routine clinical practice to determine individual genetic susceptibilities. Modern technological developments are routinely introduced to genetic analysis overtaking the esta...

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Bibliographic Details

Published in:	Frontiers in Oncology
Main Authors:	Rostislav Skitchenko, Sergey Smirnov, Mikhail Krapivin, Anna Smirnova, Mykyta Artomov, Alexander Loboda, Yulia Dinikina
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-10-01
Subjects:	SHH medulloblastoma pediatric oncology germline DeepVariant variant calling HaplotypeCaller
Online Access:	https://www.frontiersin.org/articles/10.3389/fonc.2024.1422811/full