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A compound heterozygous CNV involving IGHV3-30.
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posted on 2021-08-03, 17:36 authored by Jia-Yuan Zhang, Hannah Roberts, David S. C. Flores, Antony J. Cutler, Andrew C. Brown, Justin P. Whalley, Olga Mielczarek, David Buck, Helen Lockstone, Barbara Xella, Karen Oliver, Craig Corton, Emma Betteridge, Rachael Bashford-Rogers, Julian C. Knight, John A. Todd, Gavin Bandk-mer sharing plot (k = 20) comparing the CLR read with ID 92801871/034335 (y axis) with the HV31 assembly (x axis). The read is consistent with the presence of a three-copy unassembled haplotype as described in main text and Fig 5D. Each copy of the repeat unit is annotated with a number and an arrow for clarity.
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alignment approachesOxford NanoporeGRCh 38.10 kbassemblyHV 31.system gene regionsT cell receptor regionskiller-cell immunoglobulin-like rec...long-read sequencing platformsleukocyte antigenT cell receptorsimmunoglobulin regionsbase-level error ratesmapping techniquescore geneshaplotype variationgenomic regions encodingCD 14association studieslong-read sequencingshort-read sequencingsequence DNA
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