Tool:A notebook for checking relatedness and X heterozygosity from sequencing data
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13 hours ago
barslmn ★ 2.3k

Tool can be accessed here.

Result of the demo study can be accessed here.

Source can be accessed here.

While working with sequencing data we require check for relatedness and samples' sexes. This can be useful for identifying mix-ups and seeing which sample are related or validating repeat samples. In background, it uses vcftools relatedness2 package. This does not perform a Mendelian check so it doesn't validate the parents.

heterozygosity relatedness sequencing sex estimation • 140 views
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What would this return for individuals with Klinefelter syndrome i.e. XXY?

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