Variant Lookup update #4019
lynnpais
announced in
Feature Updates
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seqr's Variant Lookup functionality just got more powerful and informative. Here's what you can expect:
When you look up a variant, either by going directly to the Variant Lookup page or using the "seqr" link on a variant, you'll see information for all families contributing to the seqr allele count.
For families you have access to, the variants will be displayed in a familiar format resembling how genotypes are typically presented. For families you don't have full access to, you'll still be able to see details like genotypes, quality scores, sex, affected status, and high-level phenotype categories (available on hover), but you won’t see pedigrees or detailed phenotypic information.
Later in 2024, we will be launching a feature that allows researchers using seqr to connect with each other to learn more about specific families and share data.
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