NIPD

Collaboration with:

  • Cathy Liautard-Haag (Montpellier CHU)
  • Marie-Claire Vincent (Montpellier CHU and INSERM)

Bayesian approach introduced in [1] to infer the fetal fraction, the fetal genotype and the fetal allele origin using sequencing data from the mother, the father and cfDNA in the maternal plasma.

[1] C. Liautard-Haag, G. Durif, C. Van Goethem, D. Baux, A. Louis, L. Cayrefourcq, M Lamairia, M. Willems, C. Zordan, V. Dorian, C. Rooryck-Thambo, C. Goizet, A. Chaussenot, L Monteil, P. Calvas, C. Miry, R. Favre, E. Le Boette, M. Fradin, AF Roux, M. Cossee, M Koenig, C. Panabière, C. Guissart, M. C. Vincent. “Non-invasive prenatal diagnosis of triplet repeat expansion disorders by linked-read haplotyping and Bayesian modeling”. 2021. Submitted to a peer-reviewed journal.

Ghislain Durif
Ghislain Durif
Research Engineer

Research engineer