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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Statistical Package for the Social Sciences (SPSS)01:22

Statistical Package for the Social Sciences (SPSS)

The Statistical Package for the Social Sciences, or SPSS, is a data management and analysis software suite. Developed by SPSS Inc. in 1968 and acquired by IBM in 2009, this tool was initially designed for social science data analysis, evolving to serve a wider range of disciplines. It was later renamed to Statistical Product and Service Solutions.
SPSS streamlines the process from data preparation to analysis and reporting. It is characterized by its user-friendly interface, which conceals...
International Nursing Organizations I01:23

International Nursing Organizations I

International Nursing Organization (ICN) is a global union of national nurses' organizations. Individual nurses can be a part of ICN through member organizations. Each member organization strives to ensure quality nursing care, sound health policies, the advancement of nursing knowledge, respect for the profession, and a satisfied and competent nursing workforce.
ICN member organizations work to advance the field of nursing and healthcare via policies, partnerships, lobbying, professional...
Inductively Coupled Plasma–Mass Spectrometry (ICP–MS): Overview01:19

Inductively Coupled Plasma–Mass Spectrometry (ICP–MS): Overview

In inductively coupled plasma–mass spectrometry (ICP–MS), an inductively coupled plasma (ICP) torch is used as an atomizer and ionizer. Solid samples are dissolved and volatilized before being introduced into the high-temperature argon plasma, while solution samples are nebulized and passed through the high-temperature argon plasma. Plasma dissociates the analytes and ionizes their component atoms to form a mixture of positive ions and molecular species. The positive ions are then passed on to...

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Related Experiment Video

Updated: May 22, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

The SNP consortium: background and context.

Jorge L Contreras1

  • 1University of Utah S.J. Quinney College of Law, Salt Lake City, UT, United States.

Journal of Law and the Biosciences
|May 21, 2026
PubMed
Summary
This summary is machine-generated.

The SNP Consortium (TSC) successfully identified and mapped human single nucleotide polymorphisms (SNPs) ahead of schedule and under budget. Its innovative research model and patent strategy have influenced subsequent scientific collaborations.

Keywords:
NHGRINIHSNPconsortiumgenomehuman genome projectpharmacogenomicspublic-private partnership

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Area of Science:

  • Genomics
  • Biotechnology
  • Bioinformatics

Background:

  • The SNP Consortium (TSC) was established in 1999 as a nonprofit research collaboration.
  • Funded by pharmaceutical, biotech, and IT companies, plus the Wellcome Trust, with $53 million.
  • The primary goal was to identify, map, and publicly release human single nucleotide polymorphisms (SNPs).

Purpose of the Study:

  • To describe the formation, structure, and achievements of the SNP Consortium (TSC).
  • To analyze the novel 'protective' patent strategy employed by TSC.
  • To highlight TSC as a model for future scientific research collaborations.

Main Methods:

  • Formation of a nonprofit research consortium.
  • Public release of identified and mapped human genomic markers (SNPs).
  • Implementation of a unique 'protective' patent strategy.

Main Results:

  • Completion of project goals ahead of schedule and under budget.
  • Generation of more results than initially planned.
  • Establishment of a successful model for large-scale scientific collaboration.

Conclusions:

  • The SNP Consortium (TSC) demonstrated an effective model for collaborative research.
  • TSC's approach to patenting facilitated public data release and future research.
  • The consortium's success serves as a blueprint for interdisciplinary scientific endeavors.