Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Polymorphic sequence variants in medicine: a challenge and an opportunity.

Clinical medicine (London, England) - 1 Jan 2000

Hodgson Shirley V, Popat Sanjay

Abstract excerpt

The ability to detect polymorphic DNA sequence variants poses both opportunities for improved healthcare and concerns about the ethical challenges and confidentiality issues involved. Many polymorphisms confer only minor variability in disease susceptibility, which are difficult to detect and qua...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Ethics, Medical
Share to Forecasting

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Counseling

Share to Genetic Diseases, Inborn

Share to Genetics, Medical

Share to Pharmacogenetics

Share to United Kingdom

Source

Open in PubMed Open full text

Identifiers

PMID: 12848262
DOI: 10.7861/clinmedicine.3-3-260
PMCID: PMC4952453

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12848262-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Polymorphic sequence variants in medicine: a challenge and an opportunity.PMID 12848262Read ↗

DNA variations in human and medical genetics: 25 years of my experience.Semantic proximity Read ↗

Genetic polymorphisms and implications for human diseases.Semantic proximity Read ↗

Genetic variation analysis for biomedical researchers: a primer.Semantic proximity Read ↗

Using genetic variation to study human disease.Semantic proximity Read ↗

Pharmacogenetic analysis of clinically relevant genetic polymorphisms.Semantic proximity Read ↗

The U.S. FDA focuses on next-generation sequencing: Draft guidance proposals address potential standards for demonstrating analytical validity and criteria for FDA-recognized genetic variant databases.Semantic proximity Read ↗

DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium.Semantic proximity Read ↗

Genomic medicine: challenges and opportunities for physicians.Semantic proximity Read ↗

The challenge of using SNPs in the understanding and treatment of disease.Semantic proximity Read ↗

Incidental variants are critical for genomics.Semantic proximity Read ↗

Pharmacogenomics: The relevance of emerging genotyping technologies.Semantic proximity Read ↗

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.