Harvard Catalyst Profiles

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

David Matthew Altshuler, M.D., Ph.D.

Co-Author

This page shows the publications co-authored by David Altshuler and Mark Daly.
Connection Strength

5.472
  1. Guilt beyond a reasonable doubt. Nat Genet. 2007 Jul; 39(7):813-5.
    View in: PubMed
    Score: 0.371
  2. Partners in crime. Nat Genet. 2005 Apr; 37(4):337-8.
    View in: PubMed
    Score: 0.318
  3. Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes. Eur J Hum Genet. 2019 05; 27(5):824-828.
    View in: PubMed
    Score: 0.207
  4. A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. Am J Hum Genet. 2014 Nov 06; 95(5):509-20.
    View in: PubMed
    Score: 0.154
  5. 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: 0.136
  6. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet. 2011 Oct 09; 43(11):1066-73.
    View in: PubMed
    Score: 0.125
  7. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011 May; 43(5):491-8.
    View in: PubMed
    Score: 0.121
  8. Testing for an unusual distribution of rare variants. PLoS Genet. 2011 Mar; 7(3):e1001322.
    View in: PubMed
    Score: 0.120
  9. 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
  10. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet. 2010 Aug 12; 6(8).
    View in: PubMed
    Score: 0.115
  11. 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: 0.106
  12. 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: 0.104
  13. Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet. 2008 Nov; 4(11):e1000287.
    View in: PubMed
    Score: 0.102
  14. Genetic mapping in human disease. Science. 2008 Nov 07; 322(5903):881-8.
    View in: PubMed
    Score: 0.102
  15. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet. 2008 Oct; 40(10):1166-74.
    View in: PubMed
    Score: 0.101
  16. 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: 0.101
  17. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol. 2008 May; 32(4):381-5.
    View in: PubMed
    Score: 0.098
  18. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet. 2008 May; 40(5):638-45.
    View in: PubMed
    Score: 0.098
  19. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet. 2007 Dec; 39(12):1477-82.
    View in: PubMed
    Score: 0.095
  20. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A. 2007 Apr 17; 104(16):6758-63.
    View in: PubMed
    Score: 0.091
  21. 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: 0.091
  22. Transferability of tag SNPs in genetic association studies in multiple populations. Nat Genet. 2006 Nov; 38(11):1298-303.
    View in: PubMed
    Score: 0.088
  23. Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes. 2006 Oct; 55(10):2890-5.
    View in: PubMed
    Score: 0.088
  24. Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. Am J Hum Genet. 2006 Jul; 79(1):54-61.
    View in: PubMed
    Score: 0.086
  25. Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet. 2006 Jun; 38(6):663-7.
    View in: PubMed
    Score: 0.086
  26. Biases and reconciliation in estimates of linkage disequilibrium in the human genome. Am J Hum Genet. 2006 Apr; 78(4):588-603.
    View in: PubMed
    Score: 0.085
  27. Calibrating a coalescent simulation of human genome sequence variation. Genome Res. 2005 Nov; 15(11):1576-83.
    View in: PubMed
    Score: 0.083
  28. Efficiency and power in genetic association studies. Nat Genet. 2005 Nov; 37(11):1217-23.
    View in: PubMed
    Score: 0.083
  29. Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people. Diabetes. 2005 Jun; 54(6):1884-91.
    View in: PubMed
    Score: 0.080
  30. Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. Diabetes. 2005 Mar; 54(3):886-92.
    View in: PubMed
    Score: 0.079
  31. Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes. 2004 May; 53(5):1360-8.
    View in: PubMed
    Score: 0.075
  32. Human genome sequence variation and the influence of gene history, mutation and recombination. Nat Genet. 2002 Sep; 32(1):135-42.
    View in: PubMed
    Score: 0.066
  33. The structure of haplotype blocks in the human genome. Science. 2002 Jun 21; 296(5576):2225-9.
    View in: PubMed
    Score: 0.065
  34. Guilt by association. Nat Genet. 2000 Oct; 26(2):135-7.
    View in: PubMed
    Score: 0.058
  35. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet. 2000 Sep; 26(1):76-80.
    View in: PubMed
    Score: 0.058
  36. 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
  37. 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
  38. 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
  39. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91.
    View in: PubMed
    Score: 0.044
  40. Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study. Circ Cardiovasc Genet. 2016 Aug; 9(4):368-74.
    View in: PubMed
    Score: 0.043
  41. The genetic architecture of type 2 diabetes. Nature. 2016 08 04; 536(7614):41-47.
    View in: PubMed
    Score: 0.043
  42. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nat Commun. 2015 Jan 22; 6:5966.
    View in: PubMed
    Score: 0.039
  43. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 2014 Jul; 10(7):e1004494.
    View in: PubMed
    Score: 0.038
  44. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet. 2013 Nov; 45(11):1345-52.
    View in: PubMed
    Score: 0.036
  45. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013 Oct; 45(10):1226-1231.
    View in: PubMed
    Score: 0.036
  46. 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
  47. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet. 2012; 8(3):e1002607.
    View in: PubMed
    Score: 0.032
  48. A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One. 2012; 7(1):e29202.
    View in: PubMed
    Score: 0.032
  49. The functional spectrum of low-frequency coding variation. Genome Biol. 2011 Sep 14; 12(9):R84.
    View in: PubMed
    Score: 0.031
  50. Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction. Nat Genet. 2011 Jul 24; 43(8):801-5.
    View in: PubMed
    Score: 0.031
  51. Variation in genome-wide mutation rates within and between human families. Nat Genet. 2011 Jun 12; 43(7):712-4.
    View in: PubMed
    Score: 0.030
  52. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Hum Genet. 2011 Nov; 130(5):685-99.
    View in: PubMed
    Score: 0.030
  53. Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population. Hum Mol Genet. 2011 Feb 15; 20(4):827-39.
    View in: PubMed
    Score: 0.029
  54. 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
  55. Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet. 2010 Oct 28; 6(10):e1001183.
    View in: PubMed
    Score: 0.029
  56. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med. 2010 Dec 02; 363(23):2220-7.
    View in: PubMed
    Score: 0.029
  57. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet. 2010 Oct; 42(10):851-8.
    View in: PubMed
    Score: 0.029
  58. Integrating common and rare genetic variation in diverse human populations. Nature. 2010 Sep 02; 467(7311):52-8.
    View in: PubMed
    Score: 0.029
  59. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010 Sep; 20(9):1297-303.
    View in: PubMed
    Score: 0.029
  60. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet. 2010 Jul; 42(7):579-89.
    View in: PubMed
    Score: 0.029
  61. Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nat Genet. 2009 Dec; 41(12):1313-8.
    View in: PubMed
    Score: 0.027
  62. Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae. Proc Natl Acad Sci U S A. 2009 Aug 18; 106(33):13886-91.
    View in: PubMed
    Score: 0.027
  63. Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae. Heart Rhythm. 2009 May; 6(5):634-41.
    View in: PubMed
    Score: 0.026
  64. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. PLoS Genet. 2009 Feb; 5(2):e1000365.
    View in: PubMed
    Score: 0.026
  65. Whole population, genome-wide mapping of hidden relatedness. Genome Res. 2009 Feb; 19(2):318-26.
    View in: PubMed
    Score: 0.025
  66. Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. Arterioscler Thromb Vasc Biol. 2008 Nov; 28(11):2078-84.
    View in: PubMed
    Score: 0.025
  67. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet. 2008 Oct; 40(10):1216-23.
    View in: PubMed
    Score: 0.025
  68. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet. 2008 Sep; 40(9):1059-61.
    View in: PubMed
    Score: 0.025
  69. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet. 2008 Sep; 40(9):1107-12.
    View in: PubMed
    Score: 0.025
  70. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75.
    View in: PubMed
    Score: 0.024
  71. 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
  72. 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
  73. Replicating genotype-phenotype associations. Nature. 2007 Jun 07; 447(7145):655-60.
    View in: PubMed
    Score: 0.023
  74. 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: 0.023
  75. Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes. Diabetologia. 2007 Jun; 50(6):1209-17.
    View in: PubMed
    Score: 0.023
  76. The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people. Diabetes. 2006 Dec; 55(12):3620-4.
    View in: PubMed
    Score: 0.022
  77. Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity. Diabetes. 2006 Nov; 55(11):3180-4.
    View in: PubMed
    Score: 0.022
  78. 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
  79. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet. 2006 May; 38(5):550-5.
    View in: PubMed
    Score: 0.021
  80. Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes. Diabetes. 2006 Mar; 55(3):849-55.
    View in: PubMed
    Score: 0.021
  81. Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet. 2006 Feb; 38(2):214-7.
    View in: PubMed
    Score: 0.021
  82. Common deletion polymorphisms in the human genome. Nat Genet. 2006 Jan; 38(1):86-92.
    View in: PubMed
    Score: 0.021
  83. High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. Diabetes. 2006 Jan; 55(1):128-35.
    View in: PubMed
    Score: 0.021
  84. Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes. Diabetes. 2005 Aug; 54(8):2336-42.
    View in: PubMed
    Score: 0.020
  85. Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes. Diabetes. 2004 Dec; 53(12):3313-8.
    View in: PubMed
    Score: 0.019
  86. Methods for high-density admixture mapping of disease genes. Am J Hum Genet. 2004 May; 74(5):979-1000.
    View in: PubMed
    Score: 0.019
  87. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet. 2003 Jul; 34(3):267-73.
    View in: PubMed
    Score: 0.018
  88. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Am J Hum Genet. 2001 Jul; 69(1):106-16.
    View in: PubMed
    Score: 0.015
  89. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001 Feb 15; 409(6822):928-33.
    View in: PubMed
    Score: 0.015
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.