Cargando…
Prioritization of family member sequencing for the detection of rare variants
BACKGROUND: The advent of affordable sequencing has enabled researchers to discover many variants contributing to disease, including rare variants. There are methods for determining the most informative individuals for sequencing, but the application of these methods is more complex when working wit...
Autores principales: | Sippy, Rachel, Kolesar, Jill M, Darst, Burcu F, Engelman, Corinne D |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133500/ https://www.ncbi.nlm.nih.gov/pubmed/27980641 http://dx.doi.org/10.1186/s12919-016-0035-8 |
Ejemplares similares
-
Transmission and decorrelation methods for detecting rare variants using sequencing data from related individuals
por: Darst, Burcu F., et al.
Publicado: (2016) -
Successful identification of rare variants using oligogenic segregation analysis as a prioritizing tool for whole-exome sequencing studies
por: Gagnon, France, et al.
Publicado: (2011) -
Comparison between two analytic strategies to detect linkage to obesity with genetically determined age of onset: the Framingham Heart Study
por: Engelman, Corinne D, et al.
Publicado: (2003) -
Genetic Analysis Workshop 18 single-nucleotide variant prioritization based on protein impact, sequence conservation, and gene annotation
por: Nalpathamkalam, Thomas, et al.
Publicado: (2014) -
Higher criticism approach to detect rare variants using whole genome sequencing data
por: Xuan, Jing, et al.
Publicado: (2014)