nf-core / raredisease

Call and score variants from WGS/WES of rare disease patients.
https://nf-co.re/raredisease
MIT License
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WisecondorX for aneuploidy and gender detection #198

Open kvn95ss opened 2 years ago

kvn95ss commented 2 years ago

Description of feature

We have come across this tool WisecondorX which works well for detecting aneuploidy from exome data. It can also (very quickly) determine the gender of sample.

The main caveat being it needs a reference (of at least 15 samples) to compare against.

jemten commented 2 years ago

Interesting will look into it