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molgenis / NIPTeR

R Package for Non Invasive Prenatal Testing (NIPT) analysis
GNU Lesser General Public License v3.0
40 stars 16 forks source link

How To Cite...? #6

Closed VivekTodur closed 7 years ago

VivekTodur commented 7 years ago

Hi.. Is this tools published...? how about the sensitivity of this tool.. Could you please some stats...

ljohansson commented 7 years ago

Hi VivekTodur,

We are currently in the process of publishing the new methods used in NIPTeR (just accepted this week). The sensitivity depends on the exact methods used and on your dataset. However, for highest sensitivity, I would recommend to preprocess the data using GC correction and the chi_correction and then perform the prediction using the normalized chromosome value or the regression-based Z-score.

ljohansson commented 7 years ago

NIPTeR methods are now described in our paper.

Johansson, L.F, de Boer, E.N., de Weerd, H.A., van Dijk, F., Elferink, M.G., Schuring-Blom, G.H., Suijkerbuijk, R.F., Sinke, R.J., te Meerman G.J., Sijmons, R.H., Swertz, M.A. and Sikkema-Raddatz, B. “Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing,” Sci. Rep., vol. 7, no. 1, p. 1838, 2017.

VivekTodur commented 7 years ago

That's wonderful... I am on way to testing it for our lab...

Warm Regards, Vivek

On May 15, 2017 5:35 PM, "ljohansson" notifications@github.com wrote:

NIPTeR methods are now described in our paper.

Johansson, L.F, de Boer, E.N., de Weerd, H.A., van Dijk, F., Elferink, M.G., Schuring-Blom, G.H., Suijkerbuijk, R.F., Sinke, R.J., te Meerman G.J., Sijmons, R.H., Swertz, M.A. and Sikkema-Raddatz, B. “Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing,” Sci. Rep., vol. 7, no. 1, p. 1838, 2017.

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