Would haplotype analysis is enough for a rare disease?
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5.1 years ago
nuketbilgen ▴ 40

Hi, I want to analyze the WGS data from the following work,
- the aim of the project finding a pathogenic variant. - samples are core family (father, mother and two affected offspring) and one nonfamily member. - penetrance is observed in the sample group, (female offspring affected severely and male affected offspring moderately)

Would haplotype analysis is enough for a rare disease? What else do I need?

kind regards.

genome next-gen haplotype rare disease • 686 views
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