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Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4
Chromothripsis is a type of chaotic complex genomic rearrangement caused by a single event of chromosomal shattering and repair processes. Chromothripsis is known to cause rare congenital diseases when it occurs in germline cells, however, current genome analysis technologies have difficulty in dete...
Sparad:
| I publikationen: | J Hum Genet |
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| Huvudupphovsmän: | , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Springer Singapore
2020
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7324355/ https://ncbi.nlm.nih.gov/pubmed/32296131 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-020-0754-6 |
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