Steven A McCarroll

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology
    Steven A McCarroll
    Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA Department of Genetics, Harvard Medical School, Boston, MA 02115, USA Electronic address
    Neuron 80:578-87. 2013
  2. doi Copy number variation and human genome maps
    Steven A McCarroll
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 42:365-6. 2010
  3. pmc Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease
    Steven A McCarroll
    Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, USA
    Nat Genet 41:1341-4. 2009
  4. pmc Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
    Joshua M Korn
    Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
    Nat Genet 40:1253-60. 2008
  5. doi A polygenic burden of rare disruptive mutations in schizophrenia
    SHAUN M PURCELL
    1 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA 2 Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA 4 Analytic and Translational Genetics Unit, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA 5 Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Nature 506:185-90. 2014
  6. pmc Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes
    Giulio Genovese
    Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
    Am J Hum Genet 93:411-21. 2013
  7. pmc Structural haplotypes and recent evolution of the human 17q21.31 region
    Linda M Boettger
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 44:881-5. 2012
  8. pmc Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function
    Soumya Raychaudhuri
    Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
    PLoS Genet 6:e1001097. 2010
  9. ncbi Copy-number variation and association studies of human disease
    Steven A McCarroll
    Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
    Nat Genet 39:S37-42. 2007
  10. pmc Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
    Steven A McCarroll
    Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street, Boston, Massachusetts 02114, USA
    Nat Genet 40:1107-12. 2008

Detail Information

Publications35

  1. pmc Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology
    Steven A McCarroll
    Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA Department of Genetics, Harvard Medical School, Boston, MA 02115, USA Electronic address
    Neuron 80:578-87. 2013
    ..We argue that technologies at the disposal of neuroscience are adequately advanced to begin to study the biology of common and devastating polygenic disorders. ..
  2. doi Copy number variation and human genome maps
    Steven A McCarroll
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 42:365-6. 2010
    ..Maps of human genome copy number variation (CNV) are maturing into useful resources for complex disease genetics. Four new studies increase the resolution of CNV maps and seek to locate human phenotypic variation on these maps...
  3. pmc Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease
    Steven A McCarroll
    Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, USA
    Nat Genet 41:1341-4. 2009
    ..Human genome structural variation merits investigation as a potential mechanism in diseases of alloimmunity...
  4. pmc Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
    Joshua M Korn
    Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
    Nat Genet 40:1253-60. 2008
    ..The Birdsuite software is applied here to data from the Affymetrix SNP 6.0 array. Additionally, we describe a method, implemented in PLINK, to utilize these combined SNP and CNV genotypes for association testing with a phenotype...
  5. doi A polygenic burden of rare disruptive mutations in schizophrenia
    SHAUN M PURCELL
    1 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA 2 Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA 4 Analytic and Translational Genetics Unit, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA 5 Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Nature 506:185-90. 2014
    ..5 to 1 per cent) and moderately large effect. Taken together, these data suggest that population-based exome sequencing can discover risk alleles and complements established gene-mapping paradigms in neuropsychiatric disease. ..
  6. pmc Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes
    Giulio Genovese
    Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
    Am J Hum Genet 93:411-21. 2013
    ..Genome assembly efforts and future builds of the human genome reference will be strongly informed by this localization of genes and other euchromatic sequences that are embedded within highly repetitive pericentromeric regions. ..
  7. pmc Structural haplotypes and recent evolution of the human 17q21.31 region
    Linda M Boettger
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 44:881-5. 2012
    ..An older H2 form lacking such a duplication is present at low frequency in European and central African hunter-gatherer populations. We further show that complex genome structures can be analyzed by imputation from SNPs...
  8. pmc Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function
    Soumya Raychaudhuri
    Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
    PLoS Genet 6:e1001097. 2010
    ..Our method is implemented in the PLINK software package...
  9. ncbi Copy-number variation and association studies of human disease
    Steven A McCarroll
    Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
    Nat Genet 39:S37-42. 2007
    ..Critical needs are high-resolution maps of common CNPs and techniques that accurately determine the allelic state of affected individuals...
  10. pmc Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
    Steven A McCarroll
    Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street, Boston, Massachusetts 02114, USA
    Nat Genet 40:1107-12. 2008
    ..These results suggest that the CD association at IRGM arises from an alteration in IRGM regulation that affects the efficacy of autophagy and identify a common deletion polymorphism as a likely causal variant...
  11. pmc On the level: IRGM gene function is all about expression
    Alan Huett
    Gastrointestinal Unit and Center for Computational and Integrative Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Autophagy 5:96-9. 2009
    ..In addition, we comment upon the potential roles of IRGM in autophagy of intracellular pathogens, and the challenges ahead for further elucidating IRGM function...
  12. doi Discovery and genotyping of genome structural polymorphism by sequencing on a population scale
    Robert E Handsaker
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 43:269-76. 2011
    ..These methods offer a way to relate genome structural polymorphism to complex disease in populations...
  13. pmc Genome-wide association analysis identifies 13 new risk loci for schizophrenia
    Stephan Ripke
    1 Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA 2 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA 3
    Nat Genet 45:1150-9. 2013
    ..Common genetic variation has an important role in the etiology of schizophrenia, and larger studies will allow more detailed understanding of this disorder. ..
  14. doi Integrated detection and population-genetic analysis of SNPs and copy number variation
    Steven A McCarroll
    Program in Medical and Population Genetics and Genetic Analysis Platform, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Nat Genet 40:1166-74. 2008
    ..Most common, diallelic CNPs were in strong linkage disequilibrium with SNPs, and most low-frequency CNVs segregated on specific SNP haplotypes...
  15. pmc New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
    Josee Dupuis
    Department of Biostatistics, Boston University School of Public Health, Massachusetts, USA
    Nat Genet 42:105-16. 2010
    ....
  16. ncbi Copy number variation: new insights in genome diversity
    Jennifer L Freeman
    Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Genome Res 16:949-61. 2006
    ..Current efforts are directed toward a more comprehensive cataloging and characterization of CNVs that will provide the basis for determining how genomic diversity impacts biological function, evolution, and common human diseases...
  17. ncbi Genome-scale neurogenetics: methodology and meaning
    Steven A McCarroll
    1 Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA 2 Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Nat Neurosci 17:756-63. 2014
    ..Here we describe early results from genome-scale studies of large numbers of subjects and the emerging significance of these results for neurobiology. ..
  18. doi De novo mutations in schizophrenia implicate synaptic networks
    Menachem Fromer
    1 Division of Psychiatric Genomics in the Department of Psychiatry, and Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA 2 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Nature 506:179-84. 2014
    ..Aligning our findings with a parallel case-control study, we demonstrate reproducible insights into aetiological mechanisms for schizophrenia and reveal pathophysiology shared with other neurodevelopmental disorders. ..
  19. doi Extending genome-wide association studies to copy-number variation
    Steven A McCarroll
    Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
    Hum Mol Genet 17:R135-42. 2008
    ..This review will discuss new approaches, recent findings and the analytical challenges involved in expanding GWAS to appreciate the contribution of CNV to human phenotypes...
  20. pmc Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
    Sekar Kathiresan
    Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 41:334-41. 2009
    ..SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk...
  21. pmc Using population admixture to help complete maps of the human genome
    Giulio Genovese
    Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
    Nat Genet 45:406-14, 414e1-2. 2013
    ..We describe how knowledge of the locations of these sequences can inform disease association and genome biology studies...
  22. pmc Random replication of the inactive X chromosome
    Amnon Koren
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genome Res 24:64-9. 2014
    ..The two strategies coexist in the same cell, yet are segregated in space and time. ..
  23. pmc De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
    Steven C Greenway
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 41:931-5. 2009
    ..Our findings predict that at least 10% (4.5-15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF...
  24. pmc Genome-wide detection and characterization of positive selection in human populations
    Pardis C Sabeti
    Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
    Nature 449:913-8. 2007
    ....
  25. pmc zCall: a rare variant caller for array-based genotyping: genetics and population analysis
    Jacqueline I Goldstein
    Analytical and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Bioinformatics 28:2543-5. 2012
    ..We demonstrate improved detection of rare alleles when applying zCall to samples that have both Illumina Infinium HumanExome BeadChip and exome sequencing data available...
  26. ncbi Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes
    Wendy Winckler
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
    Diabetes 56:685-93. 2007
    ..We conclude that although rare variants in these six genes explain most cases of MODY, common variants in these same genes contribute very modestly, if at all, to the common form of type 2 diabetes...
  27. pmc Mutational heterogeneity in cancer and the search for new cancer-associated genes
    Michael S Lawrence
    The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02141, USA
    Nature 499:214-8. 2013
    ..By incorporating mutational heterogeneity into the analyses, MutSigCV is able to eliminate most of the apparent artefactual findings and enable the identification of genes truly associated with cancer. ..
  28. pmc Single-tissue and cross-tissue heritability of gene expression via identity-by-descent in related or unrelated individuals
    Alkes L Price
    Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, United States of America
    PLoS Genet 7:e1001317. 2011
    ....
  29. pmc Mapping copy number variation by population-scale genome sequencing
    Ryan E Mills
    Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Nature 470:59-65. 2011
    ..Our analytical framework and SV map serves as a resource for sequencing-based association studies...
  30. pmc Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
    Elizabeth K Speliotes
    Metabolism Initiative and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA
    Nat Genet 42:937-48. 2010
    ..Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation...
  31. ncbi Common deletion polymorphisms in the human genome
    Steven A McCarroll
    Department of Molecular Biology, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA
    Nat Genet 38:86-92. 2006
    ....
  32. pmc Demographic history and rare allele sharing among human populations
    Simon Gravel
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Proc Natl Acad Sci U S A 108:11983-8. 2011
    ..Our results emphasize that replication of disease association for specific rare genetic variants across diverged populations must overcome both reduced statistical power because of rarity and higher population divergence...
  33. pmc Analysis of copy number variations at 15 schizophrenia-associated loci
    Elliott Rees
    Elliott Rees, MRes, James T R Walters, PhD, MRCPsych, Lyudmila Georgieva, PhD, Anthony R Isles, PhD, MRC, Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK Kimberly D Chambert, MS, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachuetts, USA Alexander L Richards, PhD, Gerwyn Mahoney Davies, Bsc, Sophie E Legge, Bsc, Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK Jennifer L Moran, PhD, Steven A McCarroll, PhD, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge
    Br J Psychiatry 204:108-14. 2014
    ..A number of copy number variants (CNVs) have been suggested as susceptibility factors for schizophrenia. For some of these the data remain equivocal, and the frequency in individuals with schizophrenia is uncertain...
  34. pmc Differential relationship of DNA replication timing to different forms of human mutation and variation
    Amnon Koren
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 91:1033-40. 2012
    ..These results indicate differential and sex-specific relationship of DNA replication timing to different forms of mutation and recombination...
  35. pmc The Lin28/let-7 axis regulates glucose metabolism
    Hao Zhu
    Stem Cell Transplantation Program, Division of Pediatric Hematology Oncology, Children s Hospital Boston and Dana Farber Cancer Institute, Boston, MA, USA
    Cell 147:81-94. 2011
    ..These data establish the Lin28/let-7 pathway as a central regulator of mammalian glucose metabolism...