monarch-initiative / hpoannotqc

HPO Annotation QC
http://hpo-annotation-qc.readthedocs.io/en/latest/#
MIT License
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Weird stuff in description #16

Closed pnrobinson closed 6 years ago

pnrobinson commented 6 years ago

description

# cut -f11 v2.tab | sort | uniq -c | sort -nr | less
# 60357  empty
# OMIM screaming caps (mostly descriptive) 
# and some other more random hint like statemets 
# including data that visually seems like it belongs in other columns

    frequency
        5% to 13%
        2/7

    sex
        in males

    negation
        NOT

    onset
        In infancy
        School age onset
        Onset usually before puberty
        Onset in early childhoos               <- yep, childhoos
        Onset by age of three years
        Onset at birth or in childhood
        Onset about puberty

Not sure where I would put a description consisting of "0"

pnrobinson commented 6 years ago

There is a lot of information in the description that possibly now can be entered ito other structured fields. But I think now we can try to get the frequency, sex, negation, and onset by manual curation. I will see if I can do this on the plane today.

pnrobinson commented 6 years ago

This: "5% to 13%" was actually a mistake (which is still in OMIM), the actual frequency was reported to be 6/201 reported here https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-2 I have corrected.

pnrobinson commented 6 years ago

I think this is now all taken care of.