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dw-ep.yaml
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dw-ep.yaml
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study_id: CMG
study_accession: phs000693
study_title: University of Washington Center for Mendelian Genomics (UW-CMG)
study_desc: The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.
url: https://uwcmg.org/fhir
identifier_prefix: https://uwcmg.org/fhir
output_filename: uwcmg-ds-ep
id_colname: ParticipantID
whistle_src: _cmg.wstl
code_harmonization_dir: harmony
study_sponsor:
id: nhgri
name: National Human Genome Research Institute (NHGRI)
consent_group:
code: DS-EP
name: Epileptic Encephalopathy
description: Use of the data must be related to [disease]. (Programmer's note, the disease should be confirmed by someone in the know)
require_official: True
curies:
http://purl.obolibrary.org/obo/hp.owl: HP
http://purl.obolibrary.org/obo/mondo.owl: MONDO
projector_lib: projector
dataset:
subject:
filename: data/dw-ep/uw_phs000693_ds-ep_subject_2021-04-22_y9q6.csv
data_dictionary:
filename: data/subject-dd.csv
colnames:
varname: varname
desc: vardesc
type: type
values: values
code_harmonization: harmony/cmg-harmony.csv
sample:
filename: data/dw-ep/uw_phs000693_ds-ep_sample_2021-04-22_y9q6.csv
data_dictionary:
filename: data/sample-dd.csv
colnames:
varname: varname
desc: vardesc
type: type
values: values
code_harmonization: harmony/cmg-harmony.csv
sequencing:
filename: data/dw-ep/uw_phs000693_ds-ep_sequencing_2021-04-22_y9q6.csv
embed:
dataset: sample
colname: sample_id
data_dictionary:
filename: data/sequencing-dd.csv
colnames:
varname: varname
desc: vardesc
type: type
values: values
code_harmonization: harmony/cmg-harmony.csv
family:
filename: data/dw-ep/uw_phs000693_ds-ep_family_2021-04-22_y9q6.csv
data_dictionary:
filename: data/family-dd.csv
colnames:
varname: varname
desc: vardesc
type: type
values: values
code_harmonization: harmony/cmg-harmony.csv
conditions:
filename: data/dw-ep/conditions-dw-ep.csv
data_dictionary:
filename: data/conditions-dd.csv
colnames:
varname: varname
desc: vardesc
type: type
values: values
code_harmonization: harmony/cmg-harmony.csv
diseases:
filename: data/dw-ep/diseases-dw-ep.csv
data_dictionary:
filename: data/disease-dd.csv
colnames:
varname: varname
desc: vardesc
type: type
values: values
code_harmonization: harmony/cmg-harmony.csv
active_tables:
ALL: true