An SNP map of the human genome generated by reduced representation shotgun sequencing

By David Altshuler, V. J. Pollara, Christopher R. Cowles, W. V. Etten, J. Baldwin, L. Linton, Eric S. Lander. Nature, 2000

773 citations recorded by the source corpus.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/8e886a0212fb77b8b5f47a2d166f5bc6284f0f30

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In Molecular Biology

Citations in the corpus

Association study designs for complex diseases (2001, background): “On the genetic side, until recently there were relatively few (100s to 10,000s) DNA variants available to study, but advances in the past two years alone have identified nearly two million such polymorphism”
Mapping short DNA sequencing reads and calling variants using mapping quality scores. (2008, background): “neighborhood quality standard (NQS) ( Altshuler et al. 2000 ), PolyBayes develops an explicit statistical framework to model variants.”
The evolution of molecular markers — just a matter of fashion? (2004, background): “A more efficient strategy is reduced representation shotgun sequencin”
The Honey Bee Epigenomes: Differential Methylation of Brain DNA in Queens and Workers (2010, methodology): “To increase the accuracy of methylation calls, only those cytosines fulfilling neighborhood quality standards NQS41 were counted [41]; namely, we only took into account bases of quality 20 or more, flanked by at least three perfectly matching bases of quality 15 or more.”
Utilization of next-generation sequencing platforms in plant genomics and genetic variant discovery (2010, methodology): “alignment of homologous sequences from each individual to reveal sequence variation (Altshuler et al. 2000).”
High-Throughput Genomic Data in Systematics and Phylogenetics (2013, methodology): “A common workflow unites several data collection approaches: reduced-representation library (RRL) sequencing (Altshuler et al. 2000), restriction-site-associated DNA sequencing (RADseq; Miller et al. 2007, Baird et al. 2008), and related methods (e.g., CRoPs, Van Orsouw et al. 2007).”
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].”
Development and Characterization of a High Density SNP Genotyping Assay for Cattle (2009, methodology): “The sequence traces were processed in the following steps for SNP discovery using a variant of the neighborhood quality standard (NQS) method [24].”
Reduced representation bisulfite sequencing for comparative high-resolution DNA methylation analysis (2005, methodology): “P N2ai=2Di double-hits in sample a are expected by random sampling (33).”