For the Scientific Community
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 and Preprints
Learn what 23andMe researchers have discovered with the help of 23andMe research participants.
- "Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility." Nature Genetics. 24 April 2017.
- "Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness." Nature Communications. 8 March 2017.
- "GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci." Human Molecular Genetics. 11 February 2017.
- "Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma." Oncotarget. 9 February 2017.
- "Shared genetic variants suggest common pathways in allergy and autoimmune diseases." Journal of Allergy and Clinical Immunology. 7 February 2017.
- "GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium." Molecular Psychiatry. 17 January 2017.
- "Genetic evidence of assortative mating in humans." Nature Human Behavior. 9 January 2017.
- "Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders." Nature Genetics. 5 December 2016.
- "Genome-wide association analysis of pain severity in dysmenorrhea identifies association at chromosome 1p13.2, near the nerve growth factor locus." Pain. 1 November 2016.
- "Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality." Nature Genetics. 31 October 2016.
- "Genome-wide analysis identifies 12 loci influencing human reproductive behavior." Nature Genetics. 31 October 2016.
- Li QS, Tian C, Seabrook GR, Drevets WC, Narayan VA. "Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response." Translational Psychiatry. 13 September 2016.
- "Gene-based analysis of regulatory variants identifies 4 putative novel asthma risk genes related to nucleotide synthesis and signaling." Journal of Allergy and Clinical Immunology. 20 August 2016.
- "Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma." Nature Communications. 19 August 2016.
- "Genetic and environmental risk for chronic pain and the contribution of risk variants for major depressive disorder: a family-based mixed-model analysis." PLoS Medicine. 16 August 2016.
- "Genome-wide association analyses in 128,266 individuals identifies new morningness and sleep duration loci." PLoS Genetics. 5 August 2016.
- "Identification of 15 genetic loci associated with risk of major depression in individuals of European descent." Nature Genetics. 1 August 2016. Full-text available at ReadCube.
- "Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma." Nature Communications. 18 July 2016.
- "Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms." Blood Journal. 30 June 2016.
- "Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine." Nature Genetics. 20 June 2016. Pre-print available at bioRxiv.
- "Detection and interprestion of shared genetic influences on 42 human traits." Nature Genetics. 16 May 2016. Full-text available at PubMed Central.
- "Genome-wide association study identifies 74 loci associated with educational attainment." Nature. 11 May 2016. Full-text available at ResearchGate.
- "Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses." Nature Genetics. 18 April 2016. Pre-print available at bioRxiv.
- "Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases." Nature Biotechnology. 11 April 2016.
- "Genome-wide association analysis in 6,135 individuals and 252,827 controls identifies 8 loci associated with thrombosis." Human Molecular Genetics. 9 February 2016.
- "GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person." Nature Communications. 2 February 2016.
- "Quantifying prion disease penetrance using large population control cohorts." Science Translational Medicine. 20 January 2016.
- "Chronic gastroesophageal reflux disease shares genetic background with esophageal adenocarcinoma and Barrett's esophagus." Human Molecular Genetics. 23 December 2015.
- "A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia." Nature Communications. 21 December 2015.
- "Shared genetic aetiology of puberty timing between sexes and with health-related outcomes." Nature Communications. 9 November 2015.
- "Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis." Nature Genetics. 19 October 2015.
- "The impact of direct-to-consumer personal genomic testing on perceived risk of breast, prostate, colorectal, and lung cancer: findings from the PGen study." BMC Medical Genomics. 15 October 2015.
- "Causal mechanisms and balancing selection inferred from genetic associations with the Polycystic Ovary Syndrome." Nature Communications. 25 September 2015.
- "Whole-genome sequencing and deep imputation identifies non-coding variants near Engrailed-1 with large effects on bone mineral density and fracture." Nature. 14 September 2015.
- "Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study." Lancet Neuro. 10 August 2015.
- "Rare coding variants and X-linked loci associated with age at menarche." Nature Communications. 4 August 2015.
- "Explaining, not just predicting, drives interest in personal genomics." Genome Medicine. 1 August 2015.
- "Virtual research visits and direct-to-consumer genetic testing in Parkinson's disease." Digital Health. 27 June 2015.
- "How well do customers of Direct-to-Consumer Personal Genomic Services understand genetic test results? Findings from the Personal Genomics (PGen) Study." Public Health Genomics. 16 June 2015.
- "Genetic differences in the immediate transcriptome response to stress predict risk-related brain function and psychiatric disorders." Neuron. 3 June 2015.
- "Assessment of the genetic basis of rosacea by genome-wide association study." Journal of Investigative Dermatology. 12 March 2015.
- Campbell CL, Furlotte NA, Eriksson N, Hinds D, Auton A. "Escape from crossover interference increases with maternal age." Nature Communications. 19 February 2015.
- "Genetic variants associated with motion sickness point to roles of inner ear development, neurological processes, and glucose homeostasis." Human Molecular Genetics. 26 January 2015.
- Bryc K, Durand EY, Macpherson JM, Reich D, Mountain JL. "The genetic ancestry of African Americans, Latinos, and European Americans across the United States." AJHG. 18 December 2014.
- "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 Medicine. 3 December 2014.
- Fuchsberger C, Abecasis GR, Hinds DA. "minimac2: faster genotype imputation." Bioinformatics. 22 October 2014.
- Durand EY, Do CB, Mountain JL, Macpherson JM. "Ancestry Composition: A novel, efficient pipeline for ancestry deconvolution." bioRxiv. 18 October 2014.
- "Replicability and robustness of genome-wide-association studies for behavioral traits." Psychological Science. 6 October 2014.
- "NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases." Neurobiology of Aging. 4 August 2014.
- "Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease." Nature Genetics. 27 July 2014.
- Durand EY, Eriksson N, McLean CY. "Reducing pervasive false positive identical-by-descent segments detected by large-scale pedigree analysis." Molecular Biology and Evolution. 30 April 2014.
- "Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype." Journal of Allergy and Clinical Immunology. 31 December 2013.
- "Gradient Boosting as a SNP Filter: an evaluation using simulated and hair morphology data." Journal of Data Mining in Genomics & Proteomics. 20 October 2013.
- "Convergent effects of mouse Pet-1 deletion and human PET-1 variation on amygdala fear and threat processing." Experimental Neurology. 4 October 2013.
- "A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk." Genes and Immunity. 15 August 2013.
- Tung JY, Kiefer AK, Mullins M, Francke U, Eriksson N. "Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae." Journal of Investigative Dermatology. 11 July 2013.
- "A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci." Nature Genetics. 30 June 2013.
- "Serum iron levels and the risk of Parkinson's disease: a Mendelian randomization study." PLOS Medicine. 4 June 2013.
- 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 and Behavior. 4 April 2013.
- "Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia." PLoS Genetics. 28 February 2013.
- "Dealing with the unexpected: Consumer responses to direct-access BRCA mutation testing." PeerJ. 12 February 2013.
- "Androgenetic alopecia: identification of four new genetic risk loci and evidence for the contribution of WNT-signaling to its etiology." Journal of Investigative Dermatology. 28 January 2013.
- "Functional genetic variants in the vesicular monoamine transporter 1 modulate emotion processing." Molecular Psychiatry. 22 January 2013.
- "A genetic variant near olfactory receptor genes influence cilantro preference." Flavour. 29 November 2012.
- Do CB, Hinds DA, Francke U, Eriksson N. "Comparison of family history and SNP-based methods for predicting risk of polygenic disease." PLoS Genetics. 11 October 2012.
- "Genetic variants associated with breast size also influence breast cancer risk." BMC Medical Genetics. 30 June 2012.
- "Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases." PLoS Genetics. 31 May 2012.
- "Novel associations for hypothyroidism include known autoimmune risk loci." PLoS One. 6 April 2012.
- "Cryptic distant relatives are common in both isolated and cosmopolitan genetic samples." PLoS One. 3 April 2012.
- "Comprehensive research synopsis and systematic meta-analyses in Parkinson's Disease: The PDGene database." PLoS Genetics. 15 March 2012.
- "Navigating a research partnership between academia and industry to assess the impact of personalized genetic testing." Genetics in Medicine. 12 January 2012.
- "Efficient replication of over 180 genetic associations with self-reported medical data." PLoS One. 17 August 2011.
- "Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease." PLoS Genetics. 23 June 2011.
- "Hunter-gatherer genomic diversity suggests a southern African origin for modern humans." PNAS. 1 March 2011.
- "Web-based, participant-driven studies yield novel genetic associations for common traits." PLoS Genetics. 24 June 2010.
Learn what 23andMe researchers have discovered with the help of 23andMe research participants.
- White Paper 23-05: Neanderthal Ancestry Inference
- White Paper 23-11: Estimating Carrier Frequency, Carrier Detection Rate, and Post-Test Carrier Risk for Recessive Disorders
- White Paper 23-12: Estimating Complex Phenotype Prevalence Using Predictive Models
- White Paper 23-13: yHaplo™ | Identifying Y-chromosome haplogroups in arbitrarily large samples of sequenced or genotyped men
- White Paper 23-15: Scientific Standards for 23andMe's Health and Trait Reports
- White Paper 23-16: Ancestry Composition: A Novel, Efficient Pipeline for Ancestry Deconvolution
Our Commitment to Unbiased Research
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