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The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues.

Francesc MuyasLuis ZapataRoderic GuigóStephan Ossowski
Published in: Genome medicine (2020)
In summary, our multi-tissue, multi-individual study reveals a surprisingly high number of embryonic mosaic mutations in coding regions, implying novel hypotheses and diagnostic procedures for investigating genetic causes of disease and cancer predisposition.
Keyphrases
  • papillary thyroid
  • single cell
  • gene expression
  • genome wide
  • squamous cell
  • squamous cell carcinoma
  • young adults
  • transcription factor
  • lymph node metastasis