A comparative study of structural variant calling in WGS from Alzheimer’s disease families

We developed a flexible protocol to generate a high-quality deletion call set and a truth set of Sanger sequencing–validated deletions with precise breakpoints between 1 and 17,000 bp from whole-genome sequencing data in multiplex families with Alzheimer’s disease. Detecting structural variants (SVs...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	John S Malamon, John J Farrell, Li Charlie Xia, Beth A Dombroski, Rueben G Das, Jessica Way, Amanda B Kuzma, Otto Valladares, Yuk Yee Leung, Allison J Scanlon, Irving Antonio Barrera Lopez, Jack Brehony, Kim C Worley, Nancy R Zhang, Li-San Wang, Lindsay A Farrer, Gerard D Schellenberg, Wan-Ping Lee, Badri N Vardarajan
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Life Science Alliance LLC 2024-05-01
Schriftenreihe:	Life Science Alliance
Online-Zugang:	https://www.life-science-alliance.org/lookup/doi/10.26508/lsa.202302181
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