Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing
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Title
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing
Authors
Keywords
Inversion, PacBio single-molecule real-time (SMRT) sequencing, High-fidelity long-read (HiFi), Circular consensus sequencing (CCS), BRPF1
Journal
GENOMICS
Volume 113, Issue 1, Pages 1044-1053
Publisher
Elsevier BV
Online
2020-11-04
DOI
10.1016/j.ygeno.2020.10.038
References
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