nstd213 (Pham et al. 2021)
- Organism:
- Human
- Study Type:
- Somatic
- Submitter:
- Minh-Tam Pham
- Description:
- Phased structural variant analysis from Linked-read sequencing allowed identification of complex rearrangement chains consistent with chromothripsis and chromoplexy, with breakpoints occurred across a single allele, providing further evidence that complex SVs occurred in a concerted event, rather than through accumulation of multiple independent rearrangements. Preprint may be found at https://doi.org/10.1101/2021.08.09.455584. See Variant Summary counts for nstd213 in dbVar Variant Summary.
- Project:
- PRJNA751700