Joyce Anon
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Activity overview
Latest activity by Joyce Anon-
Joyce Anon commented,
That's okay, I diagnosed my disease almost a year ago, it's extremely rare and probably due to novel variants, it didn't show on any other DNA analyses either. Thank you for the update.
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Joyce Anon commented,
They never got back to me.
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Joyce Anon commented,
After more searching, and a lucky period of better-than-usual brain function, I found my answer, these numbers are typical. The longest run of homozygosity is about 500k bp (from AutoMap), which is...
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Joyce Anon commented,
I figured out a way, thank you. 40% of the 4.4 million variants in the first 22 chromosomes (default settings HaplotypeCaller) are homozygous, is this typical? I can't seem to find typical numbers ...
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Joyce Anon created a post,
Find rate of homozygosity
AnsweredHow might I see some basic statistics on a VCF file, in particular, which proportion of the variants are homozygous across the first 22 chromosomes? It would also be nice to see counts for heterozy...
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Joyce Anon commented,
Thank you, I will also keep looking.
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Joyce Anon commented,
Do you have any information yet about the nature of the bug, so that I might continue my health care and try to improve my lifelong disabilities?
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Joyce Anon commented,
Any ideas about what is wrong?
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Joyce Anon commented,
No. I was hoping for help with finding novel variants that might help explain some health issues, so that treatments can be found, and the cognitive dysfunction can be improved. But I don't have en...
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Joyce Anon commented,
Uploaded as Joyce1NebulaFuncotatorAnnotated.vcf and Joyce1NebulaFuncotatorAnnotated.vcf.idx I don't know how to do the snippet thing since I don't think it's caused by a position, and I don't have ...