Phenotype-aware prioritisation of rare Mendelian disease variants

A molecular diagnosis from the analysis of sequencing data in rare Mendelian diseases has a huge impact on the management of patients and their families. Numerous patient phenotype-aware variant prioritisation (VP) tools have been developed to help automate this process, and shorten the diagnostic o...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Trends in genetics 2022-12, Vol.38 (12), p.1271-1283
Hauptverfasser:	Kelly, Catherine, Szabo, Anita, Pontikos, Nikolas, Arno, Gavin, Robinson, Peter N., Jacobsen, Jules O.B., Smedley, Damian, Cipriani, Valentina
Format:	Artikel
Sprache:	eng
Schlagworte:	Exome Exome Sequencing Humans molecular diagnosis Phenotype rare disease Rare Diseases - diagnosis Rare Diseases - genetics variant prioritisation variant prioritization
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!