Question

trio, quad and bigger for rare disease WGS

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10.1 years ago

14134125465346445 ★ 3.6k

Is there any software that will take into account pedigree information beyond trios and quads to determine causal rare disease mutations in an afected child?

wgs trios • 2.5k views

ADD COMMENT • link updated 3.7 years ago by Ram 44k • written 10.1 years ago by 14134125465346445 ★ 3.6k

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You can also use Ingenuity Variant Analysis.

ADD REPLY • link updated 3.7 years ago by Ram 44k • written 9.6 years ago by zaheens • 0

Ram · Answer 1 · 2014-10-30

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10.1 years ago

Zev.Kronenberg 12k

pVAAST can be extended to large pedigrees.

ADD COMMENT • link updated 3.7 years ago by Ram 44k • written 10.1 years ago by Zev.Kronenberg 12k

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Hey Zev, thank you for your answer. Do you have experience with pVAAST? I am curious to know if it benefits from imputation to improve predictions.

ADD REPLY • link updated 3.7 years ago by Ram 44k • written 10.1 years ago by onuralp ▴ 190