High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification

Phasing of heterozygous alleles is critical for interpretation of cis-effects of disease-relevant variation. We sequenced 477 individuals with cystic fibrosis (CF) using linked-read sequencing, which display an average phase block N50 of 4.39 Mb. We use these samples to construct a graph representat...

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Detalles Bibliográficos
Autores principales: Mastromatteo, Scott, Chen, Angela, Gong, Jiafen, Lin, Fan, Thiruvahindrapuram, Bhooma, Sung, Wilson W.L., Whitney, Joe, Wang, Zhuozhi, Patel, Rohan V., Keenan, Katherine, Halevy, Anat, Panjwani, Naim, Avolio, Julie, Wang, Cheng, Côté-Maurais, Guillaume, Bégin, Stéphanie, Adam, Damien, Brochiero, Emmanuelle, Bjornson, Candice, Chilvers, Mark, Price, April, Parkins, Michael, van Wylick, Richard, Mateos-Corral, Dimas, Hughes, Daniel, Smith, Mary Jane, Morrison, Nancy, Tullis, Elizabeth, Stephenson, Anne L., Wilcox, Pearce, Quon, Bradley S., Leung, Winnie M., Solomon, Melinda, Sun, Lei, Ratjen, Felix, Strug, Lisa J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9647008/
https://www.ncbi.nlm.nih.gov/pubmed/36386424
http://dx.doi.org/10.1016/j.xhgg.2022.100156

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9647008/
https://www.ncbi.nlm.nih.gov/pubmed/36386424
http://dx.doi.org/10.1016/j.xhgg.2022.100156

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