Cargando…
Understanding the Basics of NGS: From Mechanism to Variant Calling
Identifying disease-causing mutations in DNA has long been the goal of genetic medicine. In the last decade, the toolkit for discovering DNA variants has undergone rapid evolution: mutations that were historically discovered by analog approaches like Sanger sequencing and multiplex ligation-dependen...
Autores principales: | Muzzey, Dale, Evans, Eric A., Lieber, Caroline |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633438/ https://www.ncbi.nlm.nih.gov/pubmed/26566462 http://dx.doi.org/10.1007/s40142-015-0076-8 |
Ejemplares similares
-
Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice
por: Roche, Myra I., et al.
Publicado: (2015) -
Non-invasive Prenatal Testing: Technologies, Clinical Assays and Implementation Strategies for Women’s Healthcare Practitioners
por: Swanson, Amy, et al.
Publicado: (2013) -
Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape
por: Finucane, Brenda, et al.
Publicado: (2016) -
Counselling in a glaucoma care service
por: Kyari, Fatima, et al.
Publicado: (2021) -
A genetic counselling protocol for the return of genomic sequencing and serological results to COVID-19 positive patients: GENCOV Study Canada
por: Casalino, Selina, et al.
Publicado: (2021)