without normal sample as control group

molgenis / NIPTeR

R Package for Non Invasive Prenatal Testing (NIPT) analysis

GNU Lesser General Public License v3.0

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without normal sample as control group #15

Open N-damo opened 5 years ago

N-damo commented 5 years ago

Hi, Thank you for your contribution in developing this software. I am just wondering how do i use NIPTeR to get Z-score when I have only one sample's bam file as input, but without normal samples as control group. This problem is very important to me. Thank you for your help. best regards Li'an Lin

ljohansson commented 5 years ago

Dear Li'an Lin,

Unfortunately this is not possible with NIPTeR. A Z-score is based on a normal distribution. The normal samples are used to create this distribution.

The only true one-sample method I know of is from Zhang Chen: https://core.ac.uk/download/pdf/48550618.pdf (chapter 7). This method may be of use for you. However, I have no experience with the method myself.

Regards, Lenanrt