For Table 2, in addition to pathology reports, Sharon Diskin and Rebecca Kauffman had assessed pathogenic germline variants, so we should add them. Yiran Guo, who is already listed as an author, ran SNPeff on the germline VCFs.
Software used: ANNOVAR, InterVar, ClinVar (need to get the versions)
jharenza
commented
2 years ago
methods + authorship file
Proposed changes
For Table 2, in addition to pathology reports, Sharon Diskin and Rebecca Kauffman had assessed pathogenic germline variants, so we should add them. Yiran Guo, who is already listed as an author, ran SNPeff on the germline VCFs.
Software used: ANNOVAR, InterVar, ClinVar (need to get the versions)
Relevant literature
SnpEff v4.3t (PMID: 22728672) ANNOVAR (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2938201/)
InterVar (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294755/)ClinVar (https://academic.oup.com/nar/article/46/D1/D1062/4641904)