VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage

Homozygous deletions (HDs) may be the cause of rare diseases and cancer, and their discovery in targeted sequencing is a challenging task. Different tools have been developed to disentangle HD discovery but a sensitive caller is still lacking. We present VarGenius-HZD, a sensitive and scalable algor...

Descripción completa

Detalles Bibliográficos
Autores principales: Musacchia, Francesco, Karali, Marianthi, Torella, Annalaura, Laurie, Steve, Policastro, Valeria, Pizzo, Mariateresa, Beltran, Sergi, Casari, Giorgio, Nigro, Vincenzo, Banfi, Sandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701221/
https://www.ncbi.nlm.nih.gov/pubmed/34946927
http://dx.doi.org/10.3390/genes12121979

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701221/
https://www.ncbi.nlm.nih.gov/pubmed/34946927
http://dx.doi.org/10.3390/genes12121979

Ejemplares similares