exomiser / Exomiser

A Tool to Annotate and Prioritize Exome Variants
https://exomiser.readthedocs.io
GNU Affero General Public License v3.0
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Allow proband age and sex as input parameters #369

Closed julesjacobsen closed 1 year ago

julesjacobsen commented 4 years ago

This will align the input data better with the contents of a phenopacket. Having these fields outside of the pedigree will also enable correct assignment of X-linked variants in males where the caller returns a 0/1 genotype instead of 1/1 for hemizygous alleles.

Having an age will enable better accuracy when scoring against late/early onset diseases as mentioned in #254

Tangentially related to #330 where we're trying to improve MOI matching to disease as opposed to age of onset matching.

julesjacobsen commented 1 year ago

This is represented in the Sample class.