Cargando…
Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing
BACKGROUND: Protein-coding regions in human genes harbor 85% of the mutations that are associated with disease-related traits. Compared with whole-genome sequencing of complex samples, exome sequencing serves as an alternative option because of its dramatically reduced cost. In fact, exome sequencin...
Autores principales: | Liu, Qi, Shen, Enjian, Min, Qingjie, Li, Xueying, Wang, Xin, Li, Xianfeng, Sun, Zhong Sheng, Wu, Jinyu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539923/ https://www.ncbi.nlm.nih.gov/pubmed/23231371 http://dx.doi.org/10.1186/1471-2164-13-692 |
Ejemplares similares
-
Anaconda: AN automated pipeline for somatic COpy Number variation Detection and Annotation from tumor exome sequencing data
por: Gao, Jianing, et al.
Publicado: (2017) -
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories
por: Wang, Jinlian, et al.
Publicado: (2015) -
A new tool for prioritization of sequence variants from whole exome sequencing data
por: Glanzmann, Brigitte, et al.
Publicado: (2016) -
An integrative variant analysis suite for whole exome next-generation sequencing data
por: Challis, Danny, et al.
Publicado: (2012) -
PaCBAM: fast and scalable processing of whole exome and targeted sequencing data
por: Valentini, Samuel, et al.
Publicado: (2019)