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About NIPT analysis #128

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LL54669466 opened this issue Nov 6, 2024 · 0 comments
Open

About NIPT analysis #128

LL54669466 opened this issue Nov 6, 2024 · 0 comments

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@LL54669466
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Hello!

I'm using WisecondorX for NIPT (Non-Invasive Prenatal Testing) analysis and have a few quick questions:

1、Handling of Duplicate Sequences
Can biobambam2, mentioned in the literature, be replaced by other duplicate marking tools like sambamba? Is it need to remove duplicate sequences from the input npz files?

2、Fetal Sex Determination:
How reliable are the fetal sex prediction results in the latest version(v1.2.9)?

3、Additional Parameters/Operations for NIPT Analysis
Are there any specific parameters or operations that require extra attention when performing NIPT analysis with WisecondorX?

Thanks for your help!

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