Kinship estimation of humans via WES

Question

[DKA]

Hello all, May I ask how I can check the proband-parent trio's kinship accuracy using WES, please? Also, are there any software/tools that can help in that regard? Thanks,

[igor]

You may also check for suggestions from previous related threads:

• Estimating cross contamination in a set of BAMS
• Relatedness check for trio samples (Proband/Parents)

Answer 1

[Simon]

I find NGSCheckMate to be very useful for checking that samples come from the same individual. The default dendrogram might not be useful as it will probably cut the tree too high for parent-child relationships, but it will give you correlations between the samples and you can take the output file to build a tree yourself. There is also a nextflow version available.