Detection of long repeat expansions from PCR-free whole-genome sequence data

Detection of long repeat expansions from PCR-free whole-genome sequence data

Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-genome sequencing (WGS) data. A solution to this problem is an important step toward integrating WGS into precision me...

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Bibliographic Details
Main Authors: Dolzhenko, Egor, van Vugt, Joke J.F.A., Shaw, Richard J., Bekritsky, Mitchell A., van Blitterswijk, Marka, Narzisi, Giuseppe, Ajay, Subramanian S., Rajan, Vani, Lajoie, Bryan R., Johnson, Nathan H., Kingsbury, Zoya, Humphray, Sean J., Schellevis, Raymond D., Brands, William J., Baker, Matt, Rademakers, Rosa, Kooyman, Maarten, Tazelaar, Gijs H.P., van Es, Michael A., McLaughlin, Russell, Sproviero, William, Shatunov, Aleksey, Jones, Ashley, Al Khleifat, Ahmad, Pittman, Alan, Morgan, Sarah, Hardiman, Orla, Al-Chalabi, Ammar, Shaw, Chris, Smith, Bradley, Neo, Edmund J., Morrison, Karen, Shaw, Pamela J., Reeves, Catherine, Winterkorn, Lara, Wexler, Nancy S., Taft, Ryan J., van den Berg, Leonard H., Bentley, David R., Veldink, Jan H., Eberle, Michael A., Housman, David E, Ng, Christopher W., Li, Alina L.
Other Authors: Massachusetts Institute of Technology. Department of Biology
Format: Article
Published: Cold Spring Harbor Laboratory 2018
Online Access:http://hdl.handle.net/1721.1/116517
https://orcid.org/0000-0001-5016-0756
https://orcid.org/0000-0003-1381-4313

Internet

http://hdl.handle.net/1721.1/116517
https://orcid.org/0000-0001-5016-0756
https://orcid.org/0000-0003-1381-4313

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