Targeted long-read sequencing identifies missing disease-causing variation

Miller, D. E., Sulovari, A., Wang, T., Loucks, H., Hoekzema, K., Munson, K. M., Lewis, A. P., Fuerte, E. P. A., Paschal, C. R., Walsh, T., Thies, J., Bennett, J. T., Glass, I., Dipple, K. M., Patterson, K., Bonkowski, E. S., Nelson, Z., Squire, A., Sikes, M., … Eichler, E. E. (2021). Targeted long-read sequencing identifies missing disease-causing variation. The American Journal of Human Genetics, 108(8), 1436–1449. https://doi.org/10.1016/j.ajhg.2021.06.006
Authors:
Danny E. Miller
Arvis Sulovari
Tianyun Wang
Hailey Loucks
Kendra Hoekzema
Katherine M. Munson
Alexandra P. Lewis
Edith P. Almanza Fuerte
Catherine R. Paschal
Tom Walsh
Jenny Thies
James T. Bennett
Ian Glass
Katrina M. Dipple
Karynne Patterson
Emily S. Bonkowski
Zoe Nelson
Audrey Squire
Megan Sikes
Erika Beckman
Robin L. Bennett
Dawn Earl
Winston Lee
Rando Allikmets
Seth J. Perlman
Penny Chow
Anne V. Hing
Tara L. Wenger
Margaret P. Adam
Angela Sun
Christina Lam
Irene Chang
Xue Zou
Stephanie L. Austin
Erin Huggins
Alexias Safi
Apoorva K. Iyengar
Timothy E. Reddy
William H. Majoros
Andrew S. Allen
Gregory E. Crawford
Priya S. Kishnani
Mary-Claire King
Tim Cherry
Jessica X. Chong
Michael J. Bamshad
Deborah A. Nickerson
Heather C. Mefford
Dan Doherty
Evan E. Eichler
Affiliated Authors:
Winston Lee
Rando Allikmets
Columbia Affiliation:
Author Keywords:
long-read sequencing, adaptive sampling, nanopore sequencing, targeted long-read sequencing
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Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2021.06.006
PMID:
34216551
DOI:
10.1016/j.ajhg.2021.06.006
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
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Record Created: