Article ; Online: Rare genetic disorders: Beyond whole-exome sequencing.
2023 Volume 25, Issue 10, Page(s) e3503
Abstract: Whole exome sequencing is commonly used as clinical exome in almost every hospital to diagnose rare and complex genetic disorders. Still, there are a lot of undiagnosed patients that require correct molecular diagnosis for treatment strategies. Different ...
Abstract | Whole exome sequencing is commonly used as clinical exome in almost every hospital to diagnose rare and complex genetic disorders. Still, there are a lot of undiagnosed patients that require correct molecular diagnosis for treatment strategies. Different techniques such as structural variants, STRs, long read sequencing, pan genomics, proteomics, transcriptomics etc could be employed to check the undiagnosed/negative cases. |
---|---|
MeSH term(s) | Humans ; Exome Sequencing ; Genomics ; Exome/genetics |
Language | English |
Publishing date | 2023-04-27 |
Publishing country | England |
Document type | Journal Article |
ZDB-ID | 1458024-x |
ISSN | 1521-2254 ; 1099-498X |
ISSN (online) | 1521-2254 |
ISSN | 1099-498X |
DOI | 10.1002/jgm.3503 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
In stock of ZB MED Cologne/Königswinter
Zs.A 5423: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.