GTX.Digest.VCF: an online NGS data interpretation system based on intelligent gene ranking and large-scale text mining

BACKGROUND: An important task in the interpretation of sequencing data is to highlight pathogenic genes (or detrimental variants) in the field of Mendelian diseases. It is still challenging despite the recent rapid development of genomics and bioinformatics. A typical interpretation workflow include...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:BMC Med Genomics
Autors principals: Jiang, Yanhuang, Wu, Chengkun, Zhang, Yanghui, Zhang, Shaowei, Yu, Shuojun, Lei, Peng, Lu, Qin, Xi, Yanwei, Wang, Hua, Song, Zhuo
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Software
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6923899/
https://ncbi.nlm.nih.gov/pubmed/31856831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0637-x
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars