Sources

Authorities Varia cites when building and maintaining its interpretation database.

Peer-Reviewed Literature

Dates next to a source mean the link and identity were verified on that date: the URL still resolved, and the named source still matched. They are not dates of editorial review of the papers in that journal.

Tier 1

These are the journals that Varia considers to be best-in-class and are primary resources for the variants in the Varia Catalog.

  • Nature (Nature): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Nature Medicine (Nat Med): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Nature Genetics (Nat Genet): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Nature Communications (Nat Commun): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Nature Neuroscience (Nat Neurosci): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Nature Aging (Nat Aging): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Nature Immunology (Nat Immunol): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Cell (Cell): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Cell Metabolism (Cell Metab): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Cell Reports (Cell Rep): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Science (Science): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Science Translational Medicine (Sci Transl Med): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • New England Journal of Medicine (NEJM): Code-level Tier 1 anchor journal used for top-tier clinical literature in the editorial grader and source discipline. Link and identity verified: 2026-09-07.
  • Lancet (Lancet): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Lancet Neurology (Lancet Neurol): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Lancet Diabetes & Endocrinology (Lancet Diabetes Endocrinol): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Lancet Healthy Longevity (Lancet Healthy Longev): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • JAMA (JAMA): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • JAMA Neurology (JAMA Neurol): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • JAMA Cardiology (JAMA Cardiol): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • JAMA Internal Medicine (JAMA Intern Med): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • JAMA Network Open (JAMA Netw Open): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • BMJ (BMJ): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Circulation (Circulation): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Circulation Research (Circ Res): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Circulation: Genomics and Precision Medicine (Circ Genom Precis Med): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • European Heart Journal (Eur Heart J): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Journal of the American College of Cardiology (JACC): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Brain (Brain): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Neuron (Neuron): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Diabetes (Diabetes): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Diabetologia (Diabetologia): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Diabetes Care (Diabetes Care): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • American Journal of Human Genetics (Am J Hum Genet): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Genetics in Medicine (Genet Med): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Alzheimer's & Dementia (Alzheimers Dement): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Journal of Clinical Endocrinology and Metabolism (JCEM): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Endocrine Reviews (Endocr Rev): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Immunity (Immunity): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Journal of Experimental Medicine (J Exp Med): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Annals of Internal Medicine (Ann Intern Med): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Annals of Neurology (Ann Neurol): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Journal of the National Cancer Institute (JNCI): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Journal of Clinical Oncology (JCO): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Cancer Research (Cancer Res): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Cancer Discovery (Cancer Discov): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Clinical Cancer Research (Clin Cancer Res): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Cancer Cell (Cancer Cell): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Annals of Oncology (Ann Oncol): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Lancet Oncology (Lancet Oncol): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • JAMA Oncology (JAMA Oncol): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Arthritis & Rheumatology (Arthritis Rheumatol): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Annals of the Rheumatic Diseases (Ann Rheum Dis): Tier 1 journal on Varia's citable-source allowlist; findings from this venue are eligible for direct citation. Link and identity verified: 2026-09-07.
  • Blood (Blood): Tier 1 hematology flagship journal, admitted 2026-08-18 on the same field-flagship basis as Circulation and Diabetes; grounds the thrombophilia evidence set. Link and identity verified: 2026-09-07.

Tier 2

Tier 2 journals remain citable, but they receive closer editorial review.

  • PLOS Genetics (PLOS Genet): Tier 2 journal accepted for citation when the evidence base is solid but not grounded in the Tier 1 anchor set. Link and identity verified: 2026-09-07.
  • PLOS Medicine (PLOS Med): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • PLOS Biology (PLOS Biol): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Genome Medicine (Genome Med): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Genome Biology (Genome Biol): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Genome Research (Genome Res): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Human Molecular Genetics (Hum Mol Genet): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Neurology (Neurology): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Molecular Neurodegeneration (Mol Neurodegener): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Neurobiology of Aging (Neurobiol Aging): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Translational Psychiatry (Transl Psychiatry): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Arteriosclerosis, Thrombosis, and Vascular Biology (ATVB): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • eLife (eLife): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Atherosclerosis (Atherosclerosis): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Journal of Lipid Research (JLR): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Aging Cell (Aging Cell): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Pharmacogenetics and Genomics (Pharmacogenet Genomics): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Clinical Pharmacology and Therapeutics (CPT): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Acta Neuropathologica (Acta Neuropathol): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • British Journal of Cancer (Br J Cancer): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • International Journal of Cancer (Int J Cancer): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Cancer Epidemiology, Biomarkers & Prevention (Cancer Epidemiol Biomarkers Prev): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Breast Cancer Research and Treatment (Breast Cancer Res Treat): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Journal of Autoimmunity (J Autoimmun): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Arthritis Research & Therapy (Arthritis Res Ther): Tier 2 journal accepted for citation when the evidence base is solid, with slightly closer editorial review than the Tier 1 set. Link and identity verified: 2026-09-07.
  • Proceedings of the National Academy of Sciences (PNAS): Tier 2 journal admitted 2026-08-18. Papers on the PNAS contributed submission track receive the same closer review as other Tier 2 sources. Link and identity verified: 2026-09-07.
  • Journal of Clinical Investigation (J Clin Invest): Tier 2 journal admitted 2026-08-18 for clinical investigation literature that meets Varia's source-caliber rules. Link and identity verified: 2026-09-07.
  • American Journal of Clinical Nutrition (Am J Clin Nutr): Tier 2 journal admitted 2026-08-18 for nutrition-genetics primary studies (sprint 75 D8 ruling). Link and identity verified: 2026-09-07.
  • British Journal of Clinical Pharmacology (Br J Clin Pharmacol): Tier 2 journal admitted 2026-08-18 for clinical-pharmacology primary studies (sprint 75 D8 ruling). Link and identity verified: 2026-09-07.
  • Biological Psychiatry (Biol Psychiatry): Tier 2 journal admitted 2026-08-18 for psychiatry research primary studies (sprint 75 D8 ruling). Link and identity verified: 2026-09-07.
  • Human Genetics (Hum Genet): Tier 2 journal admitted 2026-08-18 for human-genetics primary studies (sprint 75 D8 ruling). Link and identity verified: 2026-09-07.
  • Fertility and Sterility (Fertil Steril): Tier 2 journal admitted 2026-08-18 RESTRICTED to reproductive-SNP primary findings; citations on non-reproductive claims stay untiered (sprint 75 D8 ruling). Link and identity verified: 2026-09-07.

Variant Catalogs and Population Frequencies

These reference datasets anchor variant lookup, population frequency context, and citation cross-checking:

  • dbSNP (dbSNP): Reference SNP registry used to normalize rsID identity across source papers, scanner logic, and public-facing copy. Link and identity verified: 2026-09-07.
  • ClinVar (ClinVar): Clinical variant archive used for pathogenicity surfacing, review-status interpretation, and weekly change detection. Link and identity verified: 2026-09-07.
  • gnomAD (gnomAD): Population frequency reference used when Varia needs ancestry and allele-frequency context for variant interpretation. Link and identity verified: 2026-09-07.
  • 1000 Genomes Project (1000 Genomes): Population reference panel used as a named catalog in the public source list and broader genetics context. Link and identity verified: 2026-09-07.

Clinical Guidelines and Authority Bodies

Varia does not re-grade authorities that already publish their own clinical framework. Instead, it cites them directly and routes their outputs to the relevant product surfaces.

  • ClinPGx (ClinPGx): Successor platform for CPIC and PharmGKB data after the March 2026 migration. Varia queries CPIC guideline levels and PharmGKB clinical annotations via api.clinpgx.org and watches github.com/clinpgx/clinpgx-data/releases for schema and content updates. Link and identity verified: 2026-09-07.
  • Clinical Pharmacogenetics Implementation Consortium (CPIC): Pharmacogenomic guideline authority; content and API access now route through ClinPGx (clinpgx.org, api.clinpgx.org). Legacy cpicpgx.org redirects. Link and identity verified: 2026-09-07.
  • PharmGKB (PharmGKB): Pharmacogenomics knowledge base; clinical annotation levels queried via ClinPGx API post-migration. Link and identity verified: 2026-09-07.
  • PharmVar (PharmVar): Star-allele nomenclature authority; event-driven release detection via RSS plus monthly fallback poll. Link and identity verified: 2026-09-07.
  • FDA Table of Pharmacogenomic Biomarkers in Drug Labeling (FDA PGx Table): Named U.S. regulatory source used on the sources page when Varia explains its pharmacogenomic authority chain. Link and identity verified: 2026-09-07.
  • HUGO Gene Nomenclature Committee (HGNC): Gene-symbol authority used when Varia needs canonical naming and symbol-drift correction in editorial tooling. Link and identity verified: 2026-09-07.

ACMG Secondary Findings

Varia tracks the ACMG Secondary Findings (SF) gene list as both an authority reference and a change-detection source. The current list is ACMG SF v3.2 (Miller et al. 2023, Genetics in Medicine, DOI 10.1016/j.gim.2023.100866). Updates publish in Genetics in Medicine; Varia's ACMG SF detector subscribes to the journal RSS feed with an annual fallback poll.

  • ACMG (ACMG SF v3.2): Secondary Findings recommendations list used for pathogenic-class surfacing context. Link and identity verified: 2026-09-07.

Domain-Specific Consortia

Varia also relies on large collaborative programs that publish trait-level association data or maintain cross-study evidence infrastructure in focused domains.

  • GWAS Catalog at EMBL-EBI (GWAS Catalog): Association catalog used by the algorithmic grader for cohort counts, effect direction, and genome-wide-significance context. Link and identity verified: 2026-09-07.
  • Alzheimer's Disease Genetics Consortium (ADGC): Named Alzheimer's consortium listed on the public sources page as part of Varia's domain-specific evidence stack. Link and identity verified: 2026-09-07.
  • International Genomics of Alzheimer's Project (IGAP): Named Alzheimer's consortium listed because Varia cites major collaborative evidence rather than single-lab prominence alone. Link and identity verified: 2026-09-07.
  • Global Lipids Genetics Consortium (GLGC): Named lipid consortium listed to show where large-scale cardiovascular association signals are aggregated and maintained. Link and identity verified: 2026-09-07.

Closing Note

This page is a named reference list, not a curation roadmap. Varia still applies its own public editorial discipline on top of these sources, and the rules for that discipline live on the Editorial Standards page. The operational details of how those sources feed the product live on the Methodology page.