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Targeted genotyping of variable number tandem repeats with adVNTR

Whole-genome sequencing is increasingly used to identify Mendelian variants in clinical pipelines. These pipelines focus on single-nucleotide variants (SNVs) and also structural variants, while ignoring more complex repeat sequence variants. Here, we consider the problem of genotyping Variable Numbe...

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Detaylı Bibliyografya
Yayımlandı:Genome Res
Asıl Yazarlar: Bakhtiari, Mehrdad, Shleizer-Burko, Sharona, Gymrek, Melissa, Bansal, Vikas, Bafna, Vineet
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cold Spring Harbor Laboratory Press 2018
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6211647/
https://ncbi.nlm.nih.gov/pubmed/30352806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.235119.118
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