Cargando…
A clinically validated whole genome pipeline for structural variant detection and analysis
BACKGROUND: With the continuing decrease in cost of whole genome sequencing (WGS), we have already approached the point of inflection where WGS testing has become economically feasible, facilitating broader access to the benefits that are helping to define WGS as the new diagnostic standard. WGS pro...
Autores principales: | Neerman, Nir, Faust, Gregory, Meeks, Naomi, Modai, Shira, Kalfon, Limor, Falik-Zaccai, Tzipora, Kaplun, Alexander |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6631445/ https://www.ncbi.nlm.nih.gov/pubmed/31307387 http://dx.doi.org/10.1186/s12864-019-5866-z |
Ejemplares similares
-
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants
por: Kalfon, Limor, et al.
Publicado: (2021) -
NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems
por: Mesika, Aviv, et al.
Publicado: (2022) -
Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease
por: Abdallah Moady, Tameemi, et al.
Publicado: (2023) -
Challenges to effective and autonomous genetic testing and counseling for ethno-cultural minorities: a qualitative study
por: Cohen-Kfir, Nehama, et al.
Publicado: (2020) -
A Puzzling “Switch” in Blood Type Following Blood Transfusion
por: Akria, Luiza, et al.
Publicado: (2017)