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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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Pubblicato in:BMC Genomics
Autori principali: Neerman, Nir, Faust, Gregory, Meeks, Naomi, Modai, Shira, Kalfon, Limor, Falik-Zaccai, Tzipora, Kaplun, Alexander
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
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Accesso online: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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