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Mapping and annotation using the T2T-CHM13 reference genome
Hi, I am planning to analyzing human WGS data with the T2T-CHM13 genome as reference, which is now regarded as the complete sequence of a human genom... -
Hetrozygous / Homozygous variant ratio humans
Hi everyone,
Does anyone have an idea what the het/hom variant ratio is for humans?
Is 0.7-1 reasonable depending on population... -
Is BQSR necessary for de novo mutation calling?
Hi there,
I have been using GATK to identify variants recently. I saw that BQSR is highly recommended. But I don’t whether it is still needed...
