Skip to content

Commit

Permalink
move reference up
Browse files Browse the repository at this point in the history
  • Loading branch information
gdurif committed Dec 16, 2021
1 parent 2cdf851 commit 5f2bc3e
Showing 1 changed file with 4 additions and 6 deletions.
10 changes: 4 additions & 6 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -2,6 +2,10 @@

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.

## Reference

[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.

## Authors

- Ghislain DURIF [2]
Expand Down Expand Up @@ -186,9 +190,3 @@ You can find Python script examples to use the `prediag` Python package in a ded
- correct cfDNA genotype by checking that allelic depth is higher than an absolute threshold, and higher than a percentage of the coverage
- window-based estimation of fetal fraction with a weighted average of locus-based fetal fraction estimation with weights proportional to coverage
- account for chromosome break in fetal allele origin inference

---

## Reference

[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.

0 comments on commit 5f2bc3e

Please sign in to comment.