Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

The exome contains many obscure regions difficult to explore with current short-read sequencing methods. Repetitious genomic regions prevent the unique alignment of reads, which is essential for the identification of clinically-relevant genetic variants. Long-read technologies attempt to resolve mul...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Iadarola, Barbara, Xumerle, Luciano, Lavezzari, Denise, Paterno, Marta, Marcolungo, Luca, Beltrami, Cristina, Fortunati, Elisabetta, Mei, Davide, Vetro, Annalisa, Guerrini, Renzo, Parrini, Elena, Rossato, Marzia, Delledonne, Massimo
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7287100/
https://ncbi.nlm.nih.gov/pubmed/32523024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-66331-z
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