• KOL
  • Novo Mutations
  • Novo Mutations



    Novo Mutations: Top KOLs in the world

    Evan E Eichler #1
    Evan E Eichler
    Howard Hughes Medical Institute; Chevy Chase, MD, USA | Brot
    Known for Intellectual Disability | Novo Mutations | Structural Variation | Human Genome | Segmental Duplications
    Mark J Daly #2
    Mark J Daly
    Program in Medical and Population Genetics, Broad Institute
    Known for Type 2 Diabetes | Ulcerative Colitis | Inflammatory Bowel Disease | Genetic Variation | Multiple Sclerosis

    Stacey Bolk Gabriel #3
    Stacey Bolk Gabriel
    The Broad Institute of MIT and Harvard, Cambridge, MA, USA,
    Known for Exome Sequencing | Myocardial Infarction | Type 2 Diabetes | African Americans | Chronic Lymphocytic Leukemia
    Jay A Shendure #4
    Jay A Shendure
    Brotman Baty Institute for Precision Medicine, Seattle WA, U
    Known for Gene Expression | Single Cells | Exome Sequencing | Washington State | Human Genome
    Joris A Veltman #5
    Joris A Veltman
    Faculty of Medical Sciences, Biosciences Institute, Newcastl
    Known for Mental Retardation | Male Infertility | Intellectual Disability | Exome Sequencing | Novo Mutations
    Deborah A Nickerson #6
    Deborah A Nickerson
    Department of Genome Sciences, University of Washington, Sea
    Known for Exome Sequencing | Genetic Variation | Washington State | Rare Variants | African Americans
    Brian J O'Roak #7
    Brian J O'Roak
    Department of Molecular and Medical Genetics, Oregon Health
    Known for Novo Mutations | Joubert Syndrome | Autism Spectrum Disorder | Epileptic Encephalopathies | Exome Sequencing
    Mark A DePristo #8
    Mark A DePristo
    Google Research, Cambridge, MA, USA | BigHat Biosciences, Sa
    Known for Rare Variants | Genome Analysis Toolkit | Genetic Variation | Deep Learning | Type 2 Diabetes
    Han G Brunner #9
    Han G Brunner
    Department of Human Genetics, Radboud University Medical Cen
    Known for Myotonic Dystrophy | Novo Mutations | Mental Retardation | Human Pair | Intellectual Disability
    Benjamin M Neale #10
    Benjamin M Neale
    Analytic and Translational Genetics Unit, Department of Medi
    Known for Genetic Architecture | Complex Traits | Psychiatric Disorders | Rare Variants | Genome Wide

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