A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
By Ravi Sachidanandam, D. Weissman, S. Schmidt, Jerzy Ka̧kol, Lincoln Stein, Gabor T. Marth, Stephen T. Sherry, James C. Mullikin, B. Mortimore, D. Willey and 31 more. Nature, 2001
2,947 citations recorded by the source corpus.
Subfields: Molecular Biology
View Paper: https://www.semanticscholar.org/paper/1c1fbbac705f223618698aa78eef86a9f987960b
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
In Molecular Biology
- David Haussler
- Eric S. Lander
- W. James Kent
- Michael Olivier
- Mark J. Daly
- David Altshuler
- Terrence S. Furey
- Gonçalo R. Abecasis
Citations in the corpus
- Predicting the Effect of Mutations on Protein-Protein Binding Interactions through Structure-Based Interface Profiles (2015, background): “Mutations play fundamental roles in evolution by introducing diversity into genomes that can either be selectively advantageous or cause a change in protein affinity that can result in malfunction of the protein interaction network [1, 2].”
- Progress and Promise of Genome-Wide Association Studies for Human Complex Trait Genetics (2011, background): “The combined efforts of The International SNP Consortium (TSC), the Human Genome Project, and other SNP discovery efforts (Altshuler et al. 2000b) led to the publication of the first genome-wide map of human genetic variation (Sachidanandam et al. 2001).”
- The UniProtKB guide to the human proteome (2016, background): “not altering the function of the protein, some dramatically alter proteins and are responsible for phenotypes and diseases (24).”
- SLAF-seq: An Efficient Method of Large-Scale De Novo SNP Discovery and Genotyping Using High-Throughput Sequencing (2013, methodology): “The use of RRL for SNP discovery was first described using Sanger sequencing during the Human SNP Map Project [17,21].”
- A framework for data-driven analysis of materials under uncertainty: Countering the curse of dimensionality (2017, background): “One of the most successful and widely spread achievements was the mapping of the human genome [69].”