Cargando…
FLAGS, frequently mutated genes in public exomes
BACKGROUND: Dramatic improvements in DNA-sequencing technologies and computational analyses have led to wide use of whole exome sequencing (WES) to identify the genetic basis of Mendelian disorders. More than 180 novel rare-disease-causing genes with Mendelian inheritance patterns have been discover...
Autores principales: | Shyr, Casper, Tarailo-Graovac, Maja, Gottlieb, Michael, Lee, Jessica JY, van Karnebeek, Clara, Wasserman, Wyeth W |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267152/ https://www.ncbi.nlm.nih.gov/pubmed/25466818 http://dx.doi.org/10.1186/s12920-014-0064-y |
Ejemplares similares
-
Correction to: FLAGS, frequently mutated genes in public exomes
por: Shyr, Casper, et al.
Publicado: (2017) -
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy
por: Lee, Jessica J. Y., et al.
Publicado: (2016) -
Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors
por: Shyr, Casper, et al.
Publicado: (2016) -
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders
por: Tarailo-Graovac, Maja, et al.
Publicado: (2017) -
The genotypic and phenotypic spectrum of PIGA deficiency
por: Tarailo-Graovac, Maja, et al.
Publicado: (2015)