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Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Frederic Tran Mau-ThemYannis DuffourdAntonio VitobelloAnge-Line BruelAnne-Sophie Denommé-PichonSophie NambotJulian DelanneSebastien MouttonArthur Sorlinnull nullVictor CouturierValentin BourgeoisMartin ChevarinCharlotte PoeAnne-Laure Mosca-BoidronPatrick CallierHana SafraouLaurence Olivier-FaivreChristophe PhilippeChristel Thauvin-Robinet
Published in: Molecular genetics & genomic medicine (2021)
Parental-pooling is an efficient alternative to trio-ES. It provides rapid segregation and extension to translational research while reducing the cost of parental and Sanger sequencing.
Keyphrases
  • single cell
  • cell free
  • copy number
  • dna methylation
  • genome wide
  • loop mediated isothermal amplification
  • study protocol
  • placebo controlled