Search Results for 'Clingen'

Clingen published presentations and documents on DocSlides.

ClinGen Sequence Variant Interpretation Recommendation for de novo Cri
ClinGen Sequence Variant Interpretation Recommendation for de novo Cri
by holly
-Version 11 Working Group Pagehttps//clinicalgenom...
Case B arr [GRCh37] 11p11.2 (45904399_46480747) x 1 (
Case B arr [GRCh37] 11p11.2 (45904399_46480747) x 1 (
by ivy
dn. ). 5-year-old female with developmental delay;...
Case U arr [hg19] 9q31.2 (108,597,937-111,269,478) x 1
Case U arr [hg19] 9q31.2 (108,597,937-111,269,478) x 1
by adia
2 year-old female referred for developmental delay...
Sequence Variant Literature Search Tips and Tricks
Sequence Variant Literature Search Tips and Tricks
by wilson
Jessica Mester, MS, LCGC. Disclosure. I . am an em...
ClinGen  gene-disease clinical validity:
ClinGen gene-disease clinical validity:
by angelina
Review of experimental evidence scoring. Biocurato...
ClinGen  BioCurator  WG Call:
ClinGen BioCurator WG Call:
by danya
Splice Predictors. Marcy E. Richardson. April 25, ...
ClinGen RASopathy EP Gene Curation
ClinGen RASopathy EP Gene Curation
by morton
Biocurator Working Group Presentation. 5.10.2018. ...