Evidence map›Paper›PMID 36350094›Full record

ArticleClinical pharmacology and therapeutics2023

How to Run the Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Binglan Li, Katrin Sangkuhl, Karl Keat, Ryan M Whaley, Mark Woon, Shefali Verma, Scott Dudek, Sony Tuteja, Anurag Verma, Michelle Whirl-Carrillo and 2 more

Open access · bronzeAbstract read
In one paragraph

Article in Clinical pharmacology and therapeutics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
1.8field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Guideline
  2. Article
  3. Article
  4. PharmVar GeneFocus: NAT2-Genetic Variation and Updated Nomenclature.Clinical pharmacology and therapeutics · 2026
    Review
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 3 institutions in 1 country.

Binglan LiDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID 0000-0002-0103-6107
Katrin SangkuhlDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID 0000-0001-7880-5843
Karl KeatGenomics and Computational Biology Graduate Program, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-0945-5816
Ryan M WhaleyDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID 0000-0002-8810-3893
Mark WoonDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID 0000-0002-0248-442X
Shefali VermaDepartment of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0001-5216-4670
Scott DudekDepartment of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Sony TutejaDepartment of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0001-7007-3289
Anurag VermaDepartment of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-5063-9107
Michelle Whirl-CarrilloDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID 0000-0003-2414-9312
Marylyn D RitchieDepartment of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-1208-1720
Teri E KleinDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID 0000-0001-5527-6475
University of Pennsylvania · USStanford University · USStanford Medicine · US

Funding

PharmGKB: pharmacogenomics discovery and implementationU24HG010615 · NHGRI · STANFORD UNIVERSITY · PI TERI Ellen KLEIN, Michelle Whirl-Carrillo · 2020 to 2026
$9.5M
Pharmacogenomics Clinical Annotation Tool (PharmCAT)U24HG010862 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI KLEIN, TERI ELLEN, RITCHIE, MARYLYN D · 2020 to 2022
$1.7M
NHGRI NIH HHS U24 HG010615NHGRI NIH HHS U24 HG010862
6 · The paper itself

Abstract

Pharmacogenomics (PGx) investigates the genetic influence on drug response and is an integral part of precision medicine. While PGx testing is becoming more common in clinical practice and may be reimbursed by Medicare/Medicaid and commercial insurance, interpreting PGx testing results for clinical decision support is still a challenge. The Pharmacogenomics Clinical Annotation Tool (PharmCAT) has been designed to tackle the need for transparent, automatic interpretations of patient genetic data. PharmCAT incorporates a patient's genotypes, annotates PGx information (allele, genotype, and phenotype), and generates a report with PGx guideline recommendations from the Clinical Pharmacogenetics Implementation Consortium (CPIC) and/or the Dutch Pharmacogenetics Working Group (DPWG). PharmCAT has introduced new features in the last 2 years, including a variant call format (VCF) Preprocessor, the inclusion of DPWG guidelines, and functionalities for PGx research. For example, researchers can use the VCF Preprocessor to prepare biobank-scale data for PharmCAT. In addition, PharmCAT enables the assessment of novel partial and combination alleles that are composed of known PGx variants and can call CYP2D6 genotypes based on single and deletions in the input VCF file. This tutorial provides materials and detailed step-by-step instructions for how to use PharmCAT in a versatile way that can be tailored to users' individual needs.

Indexed as

MedicarePharmacogeneticsAgedGenotypeHumansPhenotypePrecision MedicineUnited States

Identifiers

PMID36350094
PMCPMC10121724
OpenAlexW4308638716

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.