Quality assurance within the context of genome diagnostics (a german perspective)
Abstract 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..
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:35 |
|---|---|
| Enthalten in: |
Medizinische Genetik - 35(2023), 2 vom: 13. Juni, Seite 91-104 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Florian, Kraft [VerfasserIn] |
|---|
| Links: |
Volltext [kostenfrei] |
|---|
| BKL: |
|---|
| Anmerkungen: |
© 2023 bei den Autorinnen und Autoren, publiziert von De Gruyter. |
|---|
| doi: |
10.1515/medgen-2023-2028 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
GRUY009073256 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | GRUY009073256 | ||
| 003 | DE-627 | ||
| 005 | 20240128003553.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 230813s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1515/medgen-2023-2028 |2 doi | |
| 035 | |a (DE-627)GRUY009073256 | ||
| 035 | |a (DE-B1597)medgen-2023-2028-e | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 082 | 0 | 4 | |a 610 |q VZ |
| 084 | |a 44.48 |2 bkl | ||
| 100 | 1 | |a Florian, Kraft |e verfasserin |0 (orcid)0000-0002-5324-9155 |4 aut | |
| 245 | 1 | 0 | |a Quality assurance within the context of genome diagnostics (a german perspective) |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a © 2023 bei den Autorinnen und Autoren, publiziert von De Gruyter. | ||
| 520 | |a Abstract 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. | ||
| 700 | 1 | |a Benet-Pagès, Anna |4 aut | |
| 700 | 1 | |a Berner, Daniel |4 aut | |
| 700 | 1 | |a Teubert, Anna |4 aut | |
| 700 | 1 | |a Eck, Sebastian |4 aut | |
| 700 | 1 | |a Arnold, Norbert |4 aut | |
| 700 | 1 | |a Bauer, Peter |4 aut | |
| 700 | 1 | |a Begemann, Matthias |0 (orcid)0000-0002-4659-8437 |4 aut | |
| 700 | 1 | |a Sturm, Marc |4 aut | |
| 700 | 1 | |a Kleinle, Stephanie |4 aut | |
| 700 | 1 | |a B. Haack, Tobias |4 aut | |
| 700 | 1 | |a Eggermann, Thomas |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Medizinische Genetik |d De Gruyter, 1998 |g 35(2023), 2 vom: 13. Juni, Seite 91-104 |h Online-Ressource |w (DE-627)GRUY006884253 |w (DE-600)2163157-8 |w (DE-576)265030536 |x 1863-5490 |7 nnns |
| 773 | 1 | 8 | |g volume:35 |g year:2023 |g number:2 |g day:13 |g month:06 |g pages:91-104 |
| 856 | 4 | 0 | |u https://dx.doi.org/10.1515/medgen-2023-2028 |z kostenfrei |3 Volltext |
| 912 | |a GBV_GRUY | ||
| 912 | |a SSG-OLC-PHA | ||
| 936 | b | k | |a 44.48 |j Medizinische Genetik |q VZ |
| 951 | |a AR | ||
| 952 | |d 35 |j 2023 |e 2 |b 13 |c 06 |h 91-104 | ||