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

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

Summary: 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 re...

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Bibliographic Details
Main Authors: Scott Mastromatteo, Angela Chen, Jiafen Gong, Fan Lin, Bhooma Thiruvahindrapuram, Wilson W.L. Sung, Joe Whitney, Zhuozhi Wang, Rohan V. Patel, Katherine Keenan, Anat Halevy, Naim Panjwani, Julie Avolio, Cheng Wang, Guillaume Côté-Maurais, Stéphanie Bégin, Damien Adam, Emmanuelle Brochiero, Candice Bjornson, Mark Chilvers, April Price, Michael Parkins, Richard van Wylick, Dimas Mateos-Corral, Daniel Hughes, Mary Jane Smith, Nancy Morrison, Elizabeth Tullis, Anne L. Stephenson, Pearce Wilcox, Bradley S. Quon, Winnie M. Leung, Melinda Solomon, Lei Sun, Felix Ratjen, Lisa J. Strug
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:HGG Advances
Subjects:
meconium ileus
cystic fibrosis
phasing
trypsinogen
CFTR
PRSS2
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247722000732

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http://www.sciencedirect.com/science/article/pii/S2666247722000732

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