Decoding the literature on genetic variation

• Published in: Nature biotechnology Vol. 21; no. 1; pp. 21 - 29
• Main Authors: Coronini, Roger, Ramani, Shyama V, Puget, Pierre, de Looze, Marie-Angèle, Bley, Gérard
• Format: Journal Article
• Language: English
• Published: New York, NY Nature 01.01.2003; Nature Publishing Group
• Subjects: Authorship; Bibliometrics; Biological and medical sciences; Biotechnology - organization & administration; Biotechnology - statistics & numerical data; Biotechnology - trends; Databases, Bibliographic; Diverse techniques; Fundamental and applied biological sciences. Psychology; Genetic diversity; Genetic Variation; Molecular and cellular biology; Patents as Topic - statistics & numerical data; Periodicals as Topic - statistics & numerical data; Periodicals as Topic - trends; Polymorphism, Single Nucleotide; Research - statistics & numerical data; Research - trends; United States; Universities - statistics & numerical data; United States; Scientific literature; Nucleotide sequence; DNA; Genomics; Genetic variant; Review; Method; Single nucleotide polymorphism
• ISSN: 1087-0156; 1546-1696
• DOI: 10.1038/nbt0103-21

Single-nucleotide polymorphisms (SNPs) are DNA sequence variations among individuals. Publicly funded laboratories and private businesses are attempting to associate specific SNPs (or sets of SNPs) with various medical conditions and to study the differences in SNP patterns among various human populations. Ultimately, it is hoped that knowledge of SNPs will improve medical treatment by enabling prediction of disease risk and response to therapies. To facilitate these efforts, the importance of providing publicly accessible SNP data without intellectual property restrictions prompted the formation of the SNP Consortium (http://snp.cshl.org/), a public-private initiative that, as Nature Biotechnology went to press, has now placed similar to 1.8 million SNPs in the public arena. In this article, we present an analysis of the patent and scientific literature on SNPs (up to the end of 2001) to identify the key academic researchers and centers of excellence in the area, assess the major commercial developers of SNP technology, and understand the nature and progress of work currently underway. To assess the creation of new knowledge, we conducted a detailed study of papers published in the scientific literature. We have also measured SNP technological innovation by assessing patent applications filed at the major patent offices (see "Methodology"). The survey covers the scientific and patent literature over the period 1987-2001.