Quality assurance within the context of genome diagnostics (a german perspective)

被引：1

作者：

Florian, Kraft ^{[1
]}

Benet-Pages, Anna ^{[2
,3
]}

Berner, Daniel ^{[4
]}

Teubert, Anna ^{[5
]}

Eck, Sebastian ^{[6
]}

Arnold, Norbert ^{[7
]}

Bauer, Peter ^{[8
]}

Begemann, Matthias ^{[9
]}

Sturm, Marc ^{[10
]}

Kleinle, Stephanie ^{[11
]}

Haack, Tobias B. ^{[10
]}

Eggermann, Thomas ^{[1
]}

机构：

[1] Rhein Westfal TH Aachen, Inst Humangenet & Genommed, Med Fak, Pauwels Str 30, D-52074 Aachen, Germany

[2] Helmholtz Zentrum Munchen, Inst Neurogenom, Munich, Germany

[3] Helmholtz Zentrum Munchen, Neuherberg, Germany

[4] MVZ Genet GmbH, Neu Ulm, Germany

[5] Amedes Genet, Hannover, Germany

[6] Bionano, San Diego, CA 92121 USA

[7] Univ Klinikum Schleswig Holstein, Zentrum Familiaren Brust & Eierstockkrebs, Klin Gynakol & Geburtshilfe, Kiel, Germany

[8] CENOGENE NV, Rostock, Germany

[9] Rhein Westfal TH Aachen, Inst Humangenet & Genommed, Med Fak, Aachen, Germany

[10] Univ Tubingen, Inst Med Genet & Angew Genom, Tubingen, Germany

[11] Med Genet Zentrum, Munich, Germany

来源：

MEDIZINISCHE GENETIK | 2023年 / 35卷 / 02期

关键词：

quality assurance; next generation sequencing; variant classifications; data processing; SECONDARY FINDINGS; MEDICAL GENETICS; AMERICAN-COLLEGE; GUIDELINES; STANDARDS; RECOMMENDATION; ASSOCIATION;

D O I：

10.1515/medgen-2023-2028

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The rapid and dynamic implementation of Next-Generation Sequencing (NGS)-based assays has revolutionized genetic testing, and in the near future, nearly all molecular alterations of the human genome will be diagnosable via massive parallel sequencing. While this progress will further corroborate the central role of human genetics in the multidisciplinary management of patients with genetic disorders, it must be accompanied by quality assurance measures in order to allow the safe and optimal use of knowledge ascertained from genome diagnostics. To achieve this, several valuable tools and guidelines have been developed to support the quality of genome diagnostics. In this paper, authors with experience in diverse aspects of genomic analysis summarize the current status of quality assurance in genome diagnostics, with the aim of facilitating further standardization and quality improvement in one of the core competencies of the field.

引用

页码：91 / 104

页数：14

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