Cargando…
An analytical framework for optimizing variant discovery from personal genomes
The standardization and performance testing of analysis tools is a prerequisite to widespread adoption of genome-wide sequencing, particularly in the clinic. However, performance testing is currently complicated by the paucity of standards and comparison metrics, as well as by the heterogeneity in s...
Autores principales: | Highnam, Gareth, Wang, Jason J., Kusler, Dean, Zook, Justin, Vijayan, Vinaya, Leibovich, Nir, Mittelman, David |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Pub. Group
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351570/ https://www.ncbi.nlm.nih.gov/pubmed/25711446 http://dx.doi.org/10.1038/ncomms7275 |
Ejemplares similares
-
Personal genomes and precision medicine
por: Highnam, Gareth, et al.
Publicado: (2012) -
The landscape of human STR variation
por: Willems, Thomas, et al.
Publicado: (2014) -
Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles
por: Highnam, Gareth, et al.
Publicado: (2013) -
Improving somatic variant identification through integration of genome and exome data
por: Vijayan, Vinaya, et al.
Publicado: (2017) -
Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans
por: Quilez, Javier, et al.
Publicado: (2016)