papers.bib

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@ARTICLE{Do2011,
  author = {Chuong B Do and Joyce Y Tung and Elizabeth Dorfman and Amy K Kiefer
	and Emily M Drabant and Uta Francke and Joanna L Mountain and Samuel
	M Goldman and Caroline M Tanner and J. William Langston and Anne
	Wojcicki and Nicholas Eriksson},
  title = {Web-based genome-wide association study identifies two novel loci
	and a substantial genetic component for Parkinson's disease.},
  journal = {PLoS Genet},
  year = {2011},
  volume = {7},
  pages = {e1002141},
  number = {6},
  month = {Jun},
  __markedentry = {[drsnuggles:6]},
  abstract = {Although the causes of Parkinson's disease (PD) are thought to be
	primarily environmental, recent studies suggest that a number of
	genes influence susceptibility. Using targeted case recruitment and
	online survey instruments, we conducted the largest case-control
	genome-wide association study (GWAS) of PD based on a single collection
	of individuals to date (3,426 cases and 29,624 controls). We discovered
	two novel, genome-wide significant associations with PD-rs6812193
	near SCARB2 (p = 7.6 × 10(-10), OR = 0.84) and rs11868035 near SREBF1/RAI1
	(p = 5.6 × 10(-8), OR = 0.85)-both replicated in an independent cohort.
	We also replicated 20 previously discovered genetic associations
	(including LRRK2, GBA, SNCA, MAPT, GAK, and the HLA region), providing
	support for our novel study design. Relying on a recently proposed
	method based on genome-wide sharing estimates between distantly related
	individuals, we estimated the heritability of PD to be at least 0.27.
	Finally, using sparse regression techniques, we constructed predictive
	models that account for 6\%-7\% of the total variance in liability
	and that suggest the presence of true associations just beyond genome-wide
	significance, as confirmed through both internal and external cross-validation.
	These results indicate a substantial, but by no means total, contribution
	of genetics underlying susceptibility to both early-onset and late-onset
	PD, suggesting that, despite the novel associations discovered here
	and elsewhere, the majority of the genetic component for Parkinson's
	disease remains to be discovered.},
  doi = {10.1371/journal.pgen.1002141},
  institution = {23andMe, Mountain View, California, United States of America. cdo@23andme.com},
  keywords = {Databases, Factual; Genetic Loci, genetics; Genetic Predisposition
	to Disease; Genome-Wide Association Study; Heredity, genetics; Humans;
	Internet; Parkinson Disease, genetics; Polymorphism, Single Nucleotide,
	genetics; Risk Assessment},
  language = {eng},
  medline-pst = {ppublish},
  owner = {drsnuggles},
  pii = {PGENETICS-D-11-00444},
  pmid = {21738487},
  timestamp = {2011.12.13},
  url = {http://dx.doi.org/10.1371/journal.pgen.1002141}
}

@ARTICLE{Eriksson2010,
  author = {Nicholas Eriksson and J. Michael Macpherson and Joyce Y Tung and
	Lawrence S Hon and Brian Naughton and Serge Saxonov and Linda Avey
	and Anne Wojcicki and Itsik Pe'er and Joanna Mountain},
  title = {Web-based, participant-driven studies yield novel genetic associations
	for common traits.},
  journal = {PLoS Genet},
  year = {2010},
  volume = {6},
  pages = {e1000993},
  number = {6},
  month = {Jun},
  __markedentry = {[drsnuggles:]},
  abstract = {Despite the recent rapid growth in genome-wide data, much of human
	variation remains entirely unexplained. A significant challenge in
	the pursuit of the genetic basis for variation in common human traits
	is the efficient, coordinated collection of genotype and phenotype
	data. We have developed a novel research framework that facilitates
	the parallel study of a wide assortment of traits within a single
	cohort. The approach takes advantage of the interactivity of the
	Web both to gather data and to present genetic information to research
	participants, while taking care to correct for the population structure
	inherent to this study design. Here we report initial results from
	a participant-driven study of 22 traits. Replications of associations
	(in the genes OCA2, HERC2, SLC45A2, SLC24A4, IRF4, TYR, TYRP1, ASIP,
	and MC1R) for hair color, eye color, and freckling validate the Web-based,
	self-reporting paradigm. The identification of novel associations
	for hair morphology (rs17646946, near TCHH; rs7349332, near WNT10A;
	and rs1556547, near OFCC1), freckling (rs2153271, in BNC2), the ability
	to smell the methanethiol produced after eating asparagus (rs4481887,
	near OR2M7), and photic sneeze reflex (rs10427255, near ZEB2, and
	rs11856995, near NR2F2) illustrates the power of the approach.},
  doi = {10.1371/journal.pgen.1000993},
  institution = {23andMe, Mountain View, California, United States of America. nick@23andme.com},
  keywords = {Chromosomes, Human; Genetic Variation; Genome-Wide Association Study,
	methods; Genomics; Genotype; Hair; Humans; Internet; Models, Genetic;
	Phenotype},
  language = {eng},
  medline-pst = {epublish},
  owner = {drsnuggles},
  pmid = {20585627},
  timestamp = {2011.12.13},
  url = {http://dx.doi.org/10.1371/journal.pgen.1000993}
}