Fundraising September 15, 2024 – October 1, 2024
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1
Discovering monogenic patients with a confirmed molecular diagnosis in millions of clinical notes with MonoMiner
American College of Medical Genetics and Genomics
David Wei Wu & Jonathan A. Bernstein & Gill Bejerano
gene
monogenic
patients
patient
diseases
omim
monominer
supplemental
precision
stanford
search
clinical
doi.org
figure
knowledgebase
methods
recall
diagnosis
trigger
phenotypes
candidate
sentence
codes
cohort
confirmed
starr
synonym
synonyms
cases
retrieved
molecularly
genes
annotated
diagnosed
monominer’s
positive
d.w
d.w.w
familial
g.b
phenotype
clinically
hgnc
molecular
negative
approach
causative
contains
ferritin
genetics
Language:
english
File:
PDF, 1.60 MB
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