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Titel:

Integrative omics approaches to advance rare disease diagnostics.

Dokumenttyp:
Review; Journal Article; Review; Research Support, Non-U.S. Gov't
Autor(en):
Smirnov, Dmitrii; Konstantinovskiy, Nikita; Prokisch, Holger
Abstract:
Over the past decade high-throughput DNA sequencing approaches, namely whole exome and whole genome sequencing became a standard procedure in Mendelian disease diagnostics. Implementation of these technologies greatly facilitated diagnostics and shifted the analysis paradigm from variant identification to prioritisation and evaluation. The diagnostic rates vary widely depending on the cohort size, heterogeneity and disease and range from around 30% to 50% leaving the majority of patients undiagn...     »
Zeitschriftentitel:
J Inherit Metab Dis
Jahr:
2023
Band / Volume:
46
Heft / Issue:
5
Seitenangaben Beitrag:
824-838
Volltext / DOI:
doi:10.1002/jimd.12663
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37553850
Print-ISSN:
0141-8955
TUM Einrichtung:
Institut für Humangenetik (Prof. Winkelmann)
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