Question: new to ngs- variant allele frequency
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gravatar for niro.pathirage
2.6 years ago by
niro.pathirage0 wrote:

I am new to ngs. I have a question about demonstrating limit of detection for clinical validation. For somatic variants, my understanding is that LOD can be demonstrated by using mixes commercial reference standards or hapmap DNA to create a surrogate N and T pair (https://www.illumina.com/content/dam/illumina-marketing/documents/products/whitepapers/whitepaper_wgs_tn_somatic_variant_calling.pdf).

Can anyone please explain to me how variant allele fraction detection limit can be demonstrated in a similar way for germline variant detection using hapmap samples?

Thanks in advance

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