Integration of clinical AI into health care of patients with rare diseases: experiences in the German national diagnostic framework for molecular testing beyond the exome

被引：0

|

作者：

Danyel, Magdalena ^{[1
]}

Schmidt, Axel ^{[2
]}

Brunet, Theresa ^{[3
]}

Engels, Hartmut ^{[2
]}

Knaus, Alexej ^{[4
]}

Grundmann-Hauser, Kathrin ^{[5
]}

Haack, Tobias ^{[5
]}

Moosa, Shahida ^{[6
]}

Klinkhammer, Hannah ^{[4
]}

Ehmke, Nadja ^{[1
]}

Wagner, Matias ^{[3
]}

Krawitz, Peter ^{[4
]}

机构：

[1] Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany

[2] Univ klinikum Bonn, Inst Human Genet, Bonn, Germany

[3] Tech Univ Munich, Inst Human Genet, Munich, Germany

[4] Univ Klinikum Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany

[5] Univ klinikum Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany

[6] Univ Stellenbosch, Cape Town, South Africa

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

C22.4

引用

收藏

页码：63 / 63

页数：1

相关论文

共 24 条

[21] Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing The integration of genome sequencing with clinical records and data from the internet of things will transform health care
Mattick, John S.
Dinger, Marcel
Schonrock, Nicole
Cowley, Mark
MEDICAL JOURNAL OF AUSTRALIA, 2018, 209 (05) : 197 - +
[22] Applying the Health Technology Assessment Framework for Diagnostic Technologies to Evaluate the Inclusion of Patient Reported Outcomes (PROs) in Routine Clinical Care of Chronically ill Patients
Santana, Maria J.
Feeny, David
QUALITY OF LIFE RESEARCH, 2010, 19 : 12 - 12
[23] Nationale VersorgungsLeitlinie "Unipolare Depression" aktualisiertImportant innovations of the German "National Health Care Guideline Unipolar Depression": Significance for clinical practice in the treatment of depressed patients
Cornelius Schüle
Elena Wang
MMW - Fortschritte der Medizin, 2023, 165 (3) : 40 - 45
[24] Serum gastrin in Zollinger-Ellison Syndrome - II. Prospective study of gastrin provocative testing in 293 patients from the National Institutes of Health and Comparison with 537 cases from hte literature. Evaluation of diagnostic criteria, proposal of new criteria, and correlations with clinical and tumoral features
Berna, Marc J.
Hoffmann, K. Martin
Long, Scott H.
Serrano, Jose
Gibril, Fathia
Jensen, Robert T.
MEDICINE, 2006, 85 (06) : 331 - 364