Next generation sequencing
From ISOGG Wiki
Next generation sequencing (NGS, NextGenSeq) is a new method for sequencing genomes at high speed and at low cost. It is also known as second generation sequencing (SGS) or massively parallel sequencing (MPS). For genetic genealogy purposes NGS is used for the BIG Y test from Family Tree DNA and the Y-Prime and Y-Elite tests from Full Genomes Corporation. The mitochondrial DNA full sequence test from FTDNA also uses next generation sequencing technology.
DTC DNA testing companies
Direct To Consumer DNA Testing using Next generation sequencing availability:
WGS: whole genome
- Y-Elite (incl. mtDNA): Full Genomes Corporation
- Big Y: Family Tree DNA (available only with existing Y-DNA test)
- Robasky K, Lewis NE, Church G. The role of replicates for error mitigation in next-generation sequencing. Nature Reviews Genetics 2014; 15: 56–62 (subscription required).
- Lou DI, Hussman JA, McBee RM et al. High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing. Proceedings of the National Academy of Sciences, published online before print 15 November 2013.
- Behjati S, Tarpey PS. What is next generation sequencing? Archives Dis Child Educ Pract Ed 2013; 98: 236-238.
- O'Rawe J, Jiang T, Sun G et al. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Medicine 2013 5: 28.
- Grada A, Weinbrecht K. Next-generation sequencing: methodology and application. Journal of Investigative Dermatology 2013: e11.
- Pareek CS, Smoczynski R, Tretyn A. Sequencing technologies and genome sequencing. Journal of Applied Genetics 2011 Nov; 52(4): 413-35.
- Altman A, Weber P, Bader M et al. A beginners guide to SNP calling from high-throughput DNA sequencing data. Human Genetics 2012; 131:1541-1554 (subscription required).
- Nielsen R, Paul JS, Albrechtsen A, Song YS. Genotype and SNP calling from next-generation sequencing data. Nature Reviews Genetics 2011 12: 443-451 (June) (subscription required).
- Shendure J, Hanlee Ji (2008). Next-generation DNA sequencing. Nature Biotechnology 26, 1135 - 1145 (2008). A useful introductory review article.
- Wherper M. The $1000 genome arrives - for real this time. Forbes, 14 January 2014.
- Collins FS, Hamburg MA. First FDA authorization for next-generation sequencer. Perspective article, New England Journal of Medicine, 19 November 2013.
- Next Gen Seek - making sense of next-generation sequencing data
- 8 realities of the sequencing GWAS by Dan Koboldt, MassGenomics, 31 March 2014.
- Illumina destroy the opposition again - almost... by Mick Watson, Opiniomics, 14 January 2014.
- An introduction to next generation sequencing technology - Illumina guide
- Wikibook on Next Generation Sequencing
- Wikipedia article on DNA sequencing
- Systematic multi-sample analysis of the effect of sample type (blood vs. saliva) on variant calling in WGS A white paper from DNA Genotek and Severn Bridges Genomics]
- A comparison of mappers
- Next generation sequencing for dummies A Powerpoint presentation by Andy Vierstraete, Department of Biology, Ghent University, June 2012
- GigaScience a journal sponsored by BGI
- I've received my Y-chromosome sequencing results - what now? by Thomas Krahn. The slides from Thomas Krahn's presentation at the Institute for Genetic Genealogy in August 2014.