Automated Author Profile

Jarinova, Olga

Children's Hospital of Eastern OntarioUniversity of Ottawa

Current S-Index

0.3

Sum of Dataset Indices for all datasets

Average Dataset Index per Dataset

0.1

Average Dataset Index per dataset

Total Datasets

2

Total datasets for this author

Average FAIR Score

13.5%

Average FAIR Score per dataset

Total Citations

0

Total citations to the author's datasets

Total Mentions

0

Total mentions of the author's datasets

S-Index Interpretation

S-Index Over Time

Cumulative Citations Over Time

Cumulative Mentions Over Time

Datasets

Additional file 3 of Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Additional file 3: Table S1. A table showing the curation of syndromic forms of (hypertrophic) cardiomyopathy that can have isolated left ventricular hypertrophy as the presenting feature: structured representation of inheritance, allelic requirement, disease-associated variant consequence, and variant classes reported with evidence of pathogenicity for each gene-disease pair. Tables S2–S5. Details of the filtering process of each pipeline for the 3 datasets (Table S2 - Set 1, Table S3 - Set2a and Table S4 -Set2b). Details of the demographics of the cohorts used in Set2a and Set2b are available in Table S5. Tables S6–S8. The same information that is presented in Additional File 2 is included here in xls format. Table S6. (CardiacG2P) includes a structured representation of inheritance and mechanism data for all curated gene-disease pairs. In addition this also includes information for 7 genes related to a syndrome where LVH is seen only with overt syndromic features. Table S7. (Narr_sum) has narrative summaries for each gene-disease pair as plain free text. Table S8. (Other_limited) is a list of gene-disease pairs where there is no established relationship (gene disease validity assertion from ClinGen); these are included for completeness.

Authors

  • Josephs, Katherine S. ;
  • Roberts, Angharad M. ;
  • Theotokis, Pantazis ;
  • Walsh, Roddy ;
  • Ostrowski, Philip J. ;
  • Edwards, Matthew ;
  • Fleming, Andrew ;
  • Thaxton, Courtney ;
  • Roberts, Jason D. ;
  • Care, Melanie ;
  • Zareba, Wojciech ;
  • Adler, Arnon ;
  • Sturm, Amy C. ;
  • Tadros, Rafik ;
  • Novelli, Valeria ;
  • Owens, Emma ;
  • Bronicki, Lucas ;
  • Jarinova, Olga ;
  • Callewaert, Bert ;
  • Peters, Stacey ;
  • Lumbers, Tom ;
  • Jordan, Elizabeth ;
  • Asatryan, Babken ;
  • Krishnan, Neesha ;
  • Hershberger, Ray E. ;
  • Chahal, C. Anwar A. ;
  • Landstrom, Andrew P. ;
  • James, Cynthia ;
  • McNally, Elizabeth M. ;
  • Judge, Daniel P. ;
  • van Tintelen, Peter ;
  • Wilde, Arthur ;
  • Gollob, Michael ;
  • Ingles, Jodie ;
  • Ware, James S.
0 Citations0 Mentions13% FAIR0.1 Dataset Index
10.6084/m9.figshare.26630725January 2024

Additional file 3 of Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Additional file 3: Table S1. A table showing the curation of syndromic forms of (hypertrophic) cardiomyopathy that can have isolated left ventricular hypertrophy as the presenting feature: structured representation of inheritance, allelic requirement, disease-associated variant consequence, and variant classes reported with evidence of pathogenicity for each gene-disease pair. Tables S2–S5. Details of the filtering process of each pipeline for the 3 datasets (Table S2 - Set 1, Table S3 - Set2a and Table S4 -Set2b). Details of the demographics of the cohorts used in Set2a and Set2b are available in Table S5. Tables S6–S8. The same information that is presented in Additional File 2 is included here in xls format. Table S6. (CardiacG2P) includes a structured representation of inheritance and mechanism data for all curated gene-disease pairs. In addition this also includes information for 7 genes related to a syndrome where LVH is seen only with overt syndromic features. Table S7. (Narr_sum) has narrative summaries for each gene-disease pair as plain free text. Table S8. (Other_limited) is a list of gene-disease pairs where there is no established relationship (gene disease validity assertion from ClinGen); these are included for completeness.

Authors

  • Josephs, Katherine S. ;
  • Roberts, Angharad M. ;
  • Theotokis, Pantazis ;
  • Walsh, Roddy ;
  • Ostrowski, Philip J. ;
  • Edwards, Matthew ;
  • Fleming, Andrew ;
  • Thaxton, Courtney ;
  • Roberts, Jason D. ;
  • Care, Melanie ;
  • Zareba, Wojciech ;
  • Adler, Arnon ;
  • Sturm, Amy C. ;
  • Tadros, Rafik ;
  • Novelli, Valeria ;
  • Owens, Emma ;
  • Bronicki, Lucas ;
  • Jarinova, Olga ;
  • Callewaert, Bert ;
  • Peters, Stacey ;
  • Lumbers, Tom ;
  • Jordan, Elizabeth ;
  • Asatryan, Babken ;
  • Krishnan, Neesha ;
  • Hershberger, Ray E. ;
  • Chahal, C. Anwar A. ;
  • Landstrom, Andrew P. ;
  • James, Cynthia ;
  • McNally, Elizabeth M. ;
  • Judge, Daniel P. ;
  • van Tintelen, Peter ;
  • Wilde, Arthur ;
  • Gollob, Michael ;
  • Ingles, Jodie ;
  • Ware, James S.
0 Citations0 Mentions13% FAIR0.1 Dataset Index
10.6084/m9.figshare.26630725.v1January 2024