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VUmcCGP / wisecondor

WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using whole-genome data.
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Question about inputs #54

Closed NstVasileva closed 2 years ago

NstVasileva commented 2 years ago

Hello! Do I understand correctly that references and test are the same sample? And I need few references - different sequencing of this one sample. And test - another sequencing of this sample?

Or I need few sequencing of random samples... and test is another sequencing of one of the references samples?

rstraver commented 2 years ago

Hi, While testing is done within a sample, a model needs to be created using a training set of other (healthy) samples in advance. This training set should be various patients and sequencing runs for best results.

NstVasileva commented 2 years ago

Thank you!