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Hi, I'm trying to consolidate similar variant calls in the UDN dataset using SURVIVOR merge. This method requires that I split the multisample vcf into individual sample files first, though. Would it be possible to release this data with IDs to group variant calls by sample?

Alternatively, please let me know if you have a suggestion for a better way to accomplish this.

Thanks in advance for your help and for releasing this data!

Hi,
I’m a bioinformatics masters student working at the Stanford UDN, and I’ve been looking at the frequencies of SVs that have been identified as causal in Stanford UDN patients. While most of them are low as expected (~.001), one has a total frequency of 0.16 and another has a total frequency of 0.67. The former is higher than expected, and the latter doesn’t seem to be possible.

Here are the variants with these frequencies:
chr12:25956617
DEL
autosomal dominant
HETCOUNT=265;HOMCOUNT=0
frequency=0.16

chr6:157468332
DUP:TANDEM
autosomal dominant
HETCOUNT=1102;HOMCOUNT=5
frequency=0.67

How are these frequencies possible for autosomal dominant pathogenic rare variants?

Thank you in advance for your clarification and for releasing this data!