Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Shaun Purcell, Ph.D.

Co-Author

This page shows the publications co-authored by Shaun Purcell and Mark Daly.
Connection Strength

3.811
  1. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet. 2011 Sep 18; 43(10):977-83.
    View in: PubMed
    Score: 0.498
  2. Genome-wide association study identifies five new schizophrenia loci. Nat Genet. 2011 Sep 18; 43(10):969-76.
    View in: PubMed
    Score: 0.498
  3. Parental phenotypes in family-based association analysis. Am J Hum Genet. 2005 Feb; 76(2):249-59.
    View in: PubMed
    Score: 0.312
  4. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nat Genet. 2016 10; 48(10):1107-11.
    View in: PubMed
    Score: 0.175
  5. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 Sep; 46(9):944-50.
    View in: PubMed
    Score: 0.152
  6. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 Jan 23; 77(2):235-42.
    View in: PubMed
    Score: 0.137
  7. Testing for an unusual distribution of rare variants. PLoS Genet. 2011 Mar; 7(3):e1001322.
    View in: PubMed
    Score: 0.120
  8. Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genet. 2010 Sep 09; 6(9):e1001097.
    View in: PubMed
    Score: 0.116
  9. Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet. 2009 Jun; 5(6):e1000534.
    View in: PubMed
    Score: 0.107
  10. Whole-genome association study of bipolar disorder. Mol Psychiatry. 2008 Jun; 13(6):558-69.
    View in: PubMed
    Score: 0.097
  11. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007 Sep; 81(3):559-75.
    View in: PubMed
    Score: 0.093
  12. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007 Jun 01; 316(5829):1331-6.
    View in: PubMed
    Score: 0.092
  13. Ascertainment through family history of disease often decreases the power of family-based association studies. Behav Genet. 2007 Jul; 37(4):631-6.
    View in: PubMed
    Score: 0.091
  14. WHAP: haplotype-based association analysis. Bioinformatics. 2007 Jan 15; 23(2):255-6.
    View in: PubMed
    Score: 0.089
  15. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nat Genet. 2019 05; 51(5):793-803.
    View in: PubMed
    Score: 0.053
  16. Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data. 2018 01 23; 5:180002.
    View in: PubMed
    Score: 0.048
  17. Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data. 2017 12 19; 4:170179.
    View in: PubMed
    Score: 0.048
  18. A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. Diabetes. 2017 07; 66(7):2019-2032.
    View in: PubMed
    Score: 0.046
  19. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet. 2017 01; 49(1):27-35.
    View in: PubMed
    Score: 0.045
  20. Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Nat Neurosci. 2016 12; 19(12):1563-1565.
    View in: PubMed
    Score: 0.044
  21. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91.
    View in: PubMed
    Score: 0.044
  22. The genetic architecture of type 2 diabetes. Nature. 2016 08 04; 536(7614):41-47.
    View in: PubMed
    Score: 0.043
  23. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci. 2016 Apr; 19(4):571-7.
    View in: PubMed
    Score: 0.042
  24. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20; 8(322):322ra9.
    View in: PubMed
    Score: 0.042
  25. Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Am J Hum Genet. 2015 Oct 01; 97(4):576-92.
    View in: PubMed
    Score: 0.041
  26. New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis. Int J Epidemiol. 2015 Oct; 44(5):1706-21.
    View in: PubMed
    Score: 0.041
  27. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat Genet. 2015 Nov; 47(11):1228-35.
    View in: PubMed
    Score: 0.041
  28. Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science. 2015 May 08; 348(6235):666-9.
    View in: PubMed
    Score: 0.040
  29. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am J Hum Genet. 2014 Nov 06; 95(5):535-52.
    View in: PubMed
    Score: 0.039
  30. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13; 515(7526):209-15.
    View in: PubMed
    Score: 0.039
  31. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 2013 Sep; 45(9):984-94.
    View in: PubMed
    Score: 0.035
  32. zCall: a rare variant caller for array-based genotyping: genetics and population analysis. Bioinformatics. 2012 Oct 01; 28(19):2543-5.
    View in: PubMed
    Score: 0.033
  33. Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Nat Genet. 2012 May 20; 44(6):631-5.
    View in: PubMed
    Score: 0.033
  34. Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet. 2012 Aug 11; 380(9841):572-80.
    View in: PubMed
    Score: 0.033
  35. Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. J Am Coll Cardiol. 2010 Nov 02; 56(19):1552-63.
    View in: PubMed
    Score: 0.029
  36. Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene. Am J Hum Genet. 2010 Feb 12; 86(2):285-91.
    View in: PubMed
    Score: 0.028
  37. Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS. Hum Mol Genet. 2009 May 01; 18(9):1670-83.
    View in: PubMed
    Score: 0.026
  38. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet. 2009 Mar; 41(3):334-41.
    View in: PubMed
    Score: 0.026
  39. The genome-wide patterns of variation expose significant substructure in a founder population. Am J Hum Genet. 2008 Dec; 83(6):787-94.
    View in: PubMed
    Score: 0.026
  40. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet. 2008 Oct; 40(10):1253-60.
    View in: PubMed
    Score: 0.025
  41. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet. 2008 Sep; 40(9):1056-8.
    View in: PubMed
    Score: 0.025
  42. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet. 2007 Dec; 39(12):1477-82.
    View in: PubMed
    Score: 0.024
  43. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007 Oct 18; 449(7164):851-61.
    View in: PubMed
    Score: 0.024
  44. Genome-wide detection and characterization of positive selection in human populations. Nature. 2007 Oct 18; 449(7164):913-8.
    View in: PubMed
    Score: 0.024
  45. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes. 2007 Mar; 56(3):685-93.
    View in: PubMed
    Score: 0.023
  46. Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome. Hum Mol Genet. 2007 Jan 01; 16(1):107-13.
    View in: PubMed
    Score: 0.022
  47. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet. 2006 Sep; 38(9):1055-9.
    View in: PubMed
    Score: 0.022
  48. Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease. Hum Mutat. 2006 Aug; 27(8):778-85.
    View in: PubMed
    Score: 0.022
  49. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. Mol Psychiatry. 2005 Dec; 10(12):1074-88, 1057.
    View in: PubMed
    Score: 0.021
  50. Two quantitative trait loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strains. Genetics. 2005 Dec; 171(4):1895-904.
    View in: PubMed
    Score: 0.020
  51. Support for involvement of neuregulin 1 in schizophrenia pathophysiology. Mol Psychiatry. 2005 Apr; 10(4):366-74, 328.
    View in: PubMed
    Score: 0.020
Connection Strength
The connection strength for co-authors is the sum of the scores for each of their shared publications.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.