For the Scientific Community

Just a few years ago the technology to perform genome-wide association studies did not even exist. Now we are at the forefront of a revolution in personalized genetics and medicine, thanks to a community of geneticists and other scientists, technologists, physicians and innovators. We realize that only through a community effort will this field continue to advance.

We want our service, our methods, and our goals to be transparent to our colleagues in the scientific community. Explore our scientific publications and white papers below to find out more. We welcome your comments and suggestions.

Publications

Learn what 23andMe researchers have discovered with the help of 23andMe customers.

Chang AL, Raber I, Xu J, Li R, Spitale R, Chen J, Kiefer AK, Tian C, Eriksson NK, Hinds DA, Tung JY. "Assessment of the Genetic Basis of Rosacea by Genome-Wide Association Study." J Invest Dermatol. 2015 March 12.
Campbell CL, Furlotte NA, Eriksson N, Hinds D, Auton A. "Escape from crossover interference increases with maternal age." Nat Commun. 2015 Feb 19.
Hromatka BS, Tung JY, Kiefer AK, Do CB, Hinds DA, Eriksson N. "Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis." Hum Mol Genet. 2015 Jan 26.
Bryc K, Durand EY, Macpherson JM, Reich D, Mountain JL. "The Genetic Ancestry of African Americans, Latinos, and European Americans across the United States." Am J Hum Genet. 2014 Dec 18.
Carere DA, Couper MP, Crawford SD, Kalia SS, Duggan JR, Moreno TA, Mountain JL, Roberts JS, Green RC; PGen Study Group.Design. "Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers." Genome Med. 2014 Dec 3;6(12):96
Fuchsberger C, Abecasis GR, Hinds DA."Minimac2: Faster genotype imputation." Bioinformatics. 2014 Oct 22.
Rietveld CA, Conley D, Eriksson N, Esko T, Medland SE, Vinkhuyzen AA, Yang J, Boardman JD, Chabris CF, Dawes CT, Domingue BW, Hinds DA, Johannesson M, Kiefer AK, Laibson D, Magnusson PK, MMountain JL, Oskarsson S, Rostapshova O, Teumer A, Tung JY, Visscher PM, Benjamin DJ, Cesarini D, Koellinger PD; the Social Science Genetics Association Consortium; the Social Science Genetics Association Consortium. "Replicability and Robustness of Genome-Wide-Association Studies for Behavioral Traits." Psychol Sci. 2014 Oct 6.
Durand EY, Eriksson N, McLean CY. "Reducing Pervasive False-Positive Identical-by-Descent Segments Detected by Large-Scale Pedigree Analysis." Mol Biol Evol. 2014 Aug;31(8):2212-22.
Nalls MA, Bras J, Hernandez DG, Keller MF, Majounie E, Renton AE, Saad M, Jansen I, Guerreiro R, Lubbe S, Plagnol V, Gibbs JR, Schulte C, Pankratz N, Sutherland M, Bertram L, Lill CM, DeStefano AL, Faroud T, Eriksson N, Tung JY, Edsall C, Nichols N, Brooks J, Arepalli S, Pliner H, Letson C, Heutink P, Martinez M, Gasser T, Traynor BJ, Wood N, Hardy J, Singleton AB; the International Parkinson's Disease Genomics Consortium (IPDGC) and the Parkinson's Disease meta-analysis consortium. "NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases." Neurobiol Aging. 2014 Aug 4.
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); The Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. "Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease." Nat Genet. 2014 Jul 27.
Ferreira MA, Matheson MC, Tang CS, Granell R, Ang W, Hui J, Kiefer AK, Duffy DL, Baltic S, Danoy P, Bui M, Price L, Sly PD, Eriksson N, Madden PA, Abramson MJ, Holt PG, Heath AC, Hunter M, Musk B, Robertson CF, Le Souëf P, Montgomery GW, Henderson AJ, Tung JY, Dharmage SC, Brown MA, James A, Thompson PJ, Pennell C, Martin NG, Evans DM, Hinds D, Hopper JL, the Australian Asthma Genetics Consortium Collaborators. "Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype." J Allergy Clin Immunol. 2013 Dec 30.
Lubke GH, Laurin C, Walters R, Eriksson N, Hysi P, Spector TD, Montgomery GW, Martin NG, Medland SE, Boomsma DI. "Gradient Boosting as a SNP Filter: an Evaluation Using Simulated and Hair Morphology Data." J Data Mining Genomics Proteomics. 2013 Oct 20;4.
Wellman CL, Camp M, Jones VM, MacPherson KP, Ihne J, Fitzgerald P, Maroun M, Drabant E, Bogdan R, Hariri AR, Holmes A. "Convergent effects of mouse Pet-1 deletion and human PET-1 variation on amygdala fear and threat processing." Exp Neurol. 2013 Dec;250:260-9. Epub 2013 Oct 4.
Revez JA, Bain L, Chapman B, Powell JE, Jansen R, Duffy DL, Tung JY, AAGC Collaborators, Penninx BW, Visscher PM, De Geus EJC, Boomsma DI, Hinds DA, Martin NG, Montgomery GW, Ferreira MAR. "A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk." Genes Immun. 2013 Oct;14(7):441-6. Epub 2013 Aug 15.
Tung JY, Kiefer AK, Mullins M, Francke U, Eriksson N. "Genome-Wide Association Analysis Implicates Elastic Microfibrils in the Development of Nonsyndromic Striae Distensae." J Invest Dermatol. 2013 Jul 11.
Hinds DA, McMahon G, Kiefer AK, Do CB, Eriksson N, Evans DM, St Pourcain B, Ring SM, Mountain JL, Francke U, Davey-Smith G, Timpson NJ, Tung JY. "A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci." Nat. Genet. 2013 Jun 30.
Pichler I, Del Greco M. F, Gögele M, Lill CM, Bertram L, Do CB, Eriksson N, Foroud T, Myers RH, PD GWAS Consortium, Nalls M, Keller MF, International Parkinson's Disease Genomics Consortium, Wellcome Trust Case Control Consortium 2, Benyamin B, Whitfield JB, Genetics of Iron Status Consortium, Pramstaller PP, Hicks AA, Thompson JR, Minelli C. "Serum Iron Levels and the Risk of Parkinson Disease: A Mendelian Randomization Study." PLoS Med. 2013 Jun;10(6):e1001462.
Nikolova YS, Singhi EK, Drabant EM, Hariri AR. "Reward-related ventral striatum reactivity mediates gender-specific effects of a galanin remote enhancer haplotype on problem drinking." Genes Brain Behav. 2013 Jul;12(5):516-24. Epub 2013 Apr 4.
Kiefer AK, Tung JY, Do CB, Hinds DA, Mountain JL, Francke U, Eriksson N. "Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia." PLoS Genet. 2013. 9(2): e1003299.
Francke U, Dijamco C, Kiefer AK, Eriksson N, Moiseff BR, Tung JY, Mountain JL. "Dealing with the unexpected: Consumer responses to direct-access BRCA mutation testing." PeerJ. 2013 1:e8.
Heilmann S, Kiefer AK, Fricker N, Drichel D, Hillmer AM, Herold C, Tung JY, Eriksson N, Redler S, Betz RC, Li R, Karason A, Nyholt DR, Song K, Vermeulen SH, Kanoni S, Dedoussis G, Martin NG, Kiemeny LA, Mooser V, Stefansson K, Richards JB, Becker T, Brockschmidt FF, Hinds DA, Nothen MM. "Androgenetic alopecia: identification of four new genetic risk loci and evidence for the contribution of WNT-signaling to its etiology." J Invest Dermatol. 2013 Jan 28.
Lohoff FW, Hodge R, Narasimhan S, Nall A, Ferraro TN, Mickey BJ, Heitzeg MM, Langenecker SA, Zubieta JK, Bogdan R, Nikolova YS, Drabant E, Hariri AR, Bevilacqua L, Goldman D, Doyle GA. "Functional genetic variants in the vesicular monoamine transporter 1 modulate emotion processing." Mol Psychiatry. 2014 Jan;19(1):129-39. Epub 2013 Jan 22.
Eriksson N, Wu S, Do CB, Kiefer AK, Tung JY, Mountain JL, Hinds DA, Francke U. "A genetic variant near olfactory receptor genes influence cilantro preference." Flavour. 2012 Dec;1(22).
Do CB, Hinds DA, Francke U, Eriksson N. "Comparison of Family History and SNPs for Predicting Risk of Complex Disease." PLoS Genet. 2012 Oct;8(10):e1002973.
Eriksson N, Benton GM, Do CB, Kiefer AK, Mountain JL, Hinds DA, Francke U, Tung JY. "Genetic variants associated with breast size also influence breast cancer risk." BMC Med Genet. 2012 Jun 30;13(1):53.
Li R, Brockschmidt FF, Kiefer AK, Stefansson H, Nyholt DR, Song K, Vermeulen SH, Kanoni S, Glass D, Medland SE, Dimitriou M, Waterworth D, Tung JY, Geller F, Heilmann S, Hillmer AM, Bataille V, Eigelshoven S, Hanneken S, Moebus S, Herold C, den Heijer M, Montgomery GW, Deloukas P,Eriksson N, Heath AC, Becker T, Sulem P, Mangino M, Vollenweider P, Spector TD, Dedoussis G, Martin NG, Kiemeney LA, Mooser V, Stefansson K, Hinds DA, Nöthen MM, Richards JB. "Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases." PLoS Genet. 2012 May;8(5):e1002746. Epub 2012 May 31.
Henn BM, Hon L, Macpherson JM, Eriksson N, Saxonov S, Pe'er I, Mountain JL. “Cryptic distant relatives are common in both isolated and cosmopolitan genetic samples." PLoS One. 2012;7(4):e34267.
Eriksson N, Tung JY, Kiefer AK, Hinds DA, Francke U, Mountain JL, Do CB. "Novel associations for hypothyroidism include known autoimmune risk loci." PLoS One. 2012;7(4):e34442.
Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP; 23andMe Genetic Epidemiology of Parkinson's Disease Consortium; International Parkinson's Disease Genomics Consortium; Parkinson's Disease GWAS Consortium; Wellcome Trust Case Control Consortium 2), Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JP, Bertram L. "Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database." PLoS Genet. 2012 Mar;8(3):e1002548.
Lehmann LS, Kaufman DJ, Sharp RR, Moreno TA, Mountain JL, Roberts JS, Green RC. "Navigating a research partnership between academia and industry to assess the impact of personalized genetic testing." Genet Med. 2012 Feb 14(2):268-73. Epub 2012 Jan 12.
Tung JY, Do CB, Hinds DA, Kiefer AK, Macpherson JM, Chowdry AB, Francke U, Naughton BT, Mountain JL, Wojcicki A, Eriksson N. "Efficient replication of over 180 genetic associations with self-reported medical data." PLoS One. 2011;6(8):e23473.
Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, Francke U, Mountain JL, Goldman SM, Tanner CM, Langston JW, Wojcicki A, Eriksson N. "Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease." PLoS Genet. 2011 Jun;7(6):e1002141.
Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S, Avey L, Wojcicki A, Pe'er I, Mountain J. "Web-based, participant-driven studies yield novel genetic associations for common traits." PLoS Genet. 2010 Jun 24;6(6):e1000993.

Pre-print Papers

Learn what 23andMe researchers have discovered with the help of 23andMe customers.

Durand EY, Do CB, Mountain JL, Macpherson JM. "Ancestry Composition: A Novel, Efficient Pipeline for Ancestry Deconvolution." bioRxiv. 2014 Oct 18.

White Papers

Read about 23andMe's analysis methods in the technical documents provided below.

Our Open Letter to the Scientific Community

Open Letter to the Scientific Community

Our Scientific Standards

Click here to learn about how we ensure that our research and data meet high scientific standards.

Our Commitment to Unbiased Research

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Have feedback about our letter or technical documents? Let us know at editor@23andme.com.