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Title:

Integrative omics approaches to advance rare disease diagnostics.

Document type:
Review; Journal Article; Review; Research Support, Non-U.S. Gov't
Author(s):
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...     »
Journal title abbreviation:
J Inherit Metab Dis
Year:
2023
Journal volume:
46
Journal issue:
5
Pages contribution:
824-838
Fulltext / DOI:
doi:10.1002/jimd.12663
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37553850
Print-ISSN:
0141-8955
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann)
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