Shamil Sunyaev

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Publications in SciGraph latest 50 shown

  • 2018-12-03 Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations in NATURE GENETICS
  • 2018-12 An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery in NPJ GENOMIC MEDICINE
  • 2018-12 PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants in GENOME BIOLOGY
  • 2018-11-26 Reply to ‘Selective effects of heterozygous protein-truncating variants’ in NATURE GENETICS
  • 2018-11 Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations in NATURE GENETICS
  • 2018-09 A literature review at genome scale: improving clinical variant assessment in GENETICS IN MEDICINE
  • 2017-12 Bayesian inference of negative and positive selection in human cancers in NATURE GENETICS
  • 2017-12 Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer in NATURE COMMUNICATIONS
  • 2017-05 Estimating the selective effects of heterozygous protein-truncating variants from human exome data in NATURE GENETICS
  • 2017-04 Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types in NATURE GENETICS
  • 2017-02 A framework for the detection of de novo mutations in family-based sequencing data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-10-31 Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects in NATURE COMMUNICATIONS
  • 2016-03 Genes with monoallelic expression contribute disproportionately to genetic diversity in humans in NATURE GENETICS
  • 2015-12 Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels in NATURE COMMUNICATIONS
  • 2015-09 Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases in NATURE GENETICS
  • 2015-08 Identification of cis-suppression of human disease mutations by comparative genomics in NATURE
  • 2015-07 Genome-wide patterns and properties of de novo mutations in humans in NATURE GENETICS
  • 2015-02 Integrative analysis of 111 reference human epigenomes in NATURE
  • 2015-02 No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans in NATURE GENETICS
  • 2015-02 Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction in NATURE
  • 2015-02 Cell-of-origin chromatin organization shapes the mutational landscape of cancer in NATURE
  • 2014-11 Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’ in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-08 Whole-genome sequence variation, population structure and demographic history of the Dutch population in NATURE GENETICS
  • 2014-04 Guidelines for investigating causality of sequence variants in human disease in NATURE
  • 2014-03 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge in GENOME BIOLOGY
  • 2014-01 Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair in NATURE BIOTECHNOLOGY
  • 2013-12 Genome analysis reveals insights into physiology and longevity of the Brandt’s bat Myotis brandtii in NATURE COMMUNICATIONS
  • 2013-12 Evaluating empirical bounds on complex disease genetic architecture in NATURE GENETICS
  • 2013-07 Mutational heterogeneity in cancer and the search for new cancer-associated genes in NATURE
  • 2013-07 Sequencing studies in human genetics: design and interpretation in NATURE REVIEWS GENETICS
  • 2012-12-05 Genomic variation landscape of the human gut microbiome in NATURE
  • 2012-09 The accessible chromatin landscape of the human genome in NATURE
  • 2012-06 Exome sequencing and the genetic basis of complex traits in NATURE GENETICS
  • 2012-06 Extremely low-coverage sequencing and imputation increases power for genome-wide association studies in NATURE GENETICS
  • 2012-04-04 Patterns and rates of exonic de novo mutations in autism spectrum disorders in NATURE
  • 2011-11 Genome sequencing reveals insights into physiology and longevity of the naked mole rat in NATURE
  • 2011-09 Computational and statistical approaches to analyzing variants identified by exome sequencing in GENOME BIOLOGY
  • 2010-04 A method and server for predicting damaging missense mutations in NATURE METHODS
  • 2009-04 Computational analysis of human genome polymorphism in MOLECULAR BIOLOGY
  • 2009-04 Human mutation rate associated with DNA replication timing in NATURE GENETICS
  • 2009 Interpreting Population Sequencing Data in BIOINFORMATICS RESEARCH AND APPLICATIONS
  • 2008-12 SNP2RFLP: a computational tool to facilitate genetic mapping using benchtop analysis of SNPs in MAMMALIAN GENOME
  • 2008-02 Proportionally more deleterious genetic variation in European than in African populations in NATURE
  • 2007-07 Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project in NATURE
  • 2006-08 Protein evolution: Causes of trends in amino-acid gain and loss (Reply) in NATURE
  • 2006 Understanding the Functional Importance of Human Single Nucleotide Polymorphisms in DISCOVERING BIOMOLECULAR MECHANISMS WITH COMPUTATIONAL BIOLOGY
  • 2005-06 Biocomputing enters its adolescence in GENOME BIOLOGY
  • 2005-05 Corrigendum: A universal trend of amino acid gain and loss in protein evolution in NATURE
  • 2005-02 A universal trend of amino acid gain and loss in protein evolution in NATURE
  • 2004-06 Positive selection at sites of multiple amino acid replacements since rat–mouse divergence in NATURE
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