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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...

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Détails bibliographiques
Publié dans:BMC Genomics
Auteurs principaux: Neerman, Nir, Faust, Gregory, Meeks, Naomi, Modai, Shira, Kalfon, Limor, Falik-Zaccai, Tzipora, Kaplun, Alexander
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2019
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6631445/
https://ncbi.nlm.nih.gov/pubmed/31307387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-019-5866-z
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