Detection of de novo copy number deletions from targeted sequencing of trios

MOTIVATION: De novo copy number deletions have been implicated in many diseases, but there is no formal method to date that identifies de novo deletions in parent-offspring trios from capture-based sequencing platforms. RESULTS: We developed Minimum Distance for Targeted Sequencing (MDTS) to fill th...

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Enregistré dans:
Détails bibliographiques
Publié dans:Bioinformatics
Auteurs principaux: Fu, Jack M, Leslie, Elizabeth J, Scott, Alan F, Murray, Jeffrey C, Marazita, Mary L, Beaty, Terri H, Scharpf, Robert B, Ruczinski, Ingo
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2019
Sujets:
Original Papers
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6378941/
https://ncbi.nlm.nih.gov/pubmed/30084993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bty677
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