A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.

Gelfman, Sahar; Dugger, Sarah; de Araujo Martins Moreno, Cristiane; Ren, Zhong; Wolock, Charles J; Shneider, Neil A; Phatnani, Hemali; Cirulli, Elizabeth T; Lasseigne, Brittany N; Harris, Tim; Maniatis, Tom; Rouleau, Guy A; Brown, Robert H; Gitler, Aaron D; Myers, Richard M; Petrovski, Slavé; Allen, Andrew; Goldstein, David B; Harms, Matthew B

Gelfman, Sahar; Dugger, Sarah; de Araujo Martins Moreno, Cristiane; Ren, Zhong; Wolock, Charles J; Shneider, Neil A; Phatnani, Hemali; Cirulli, Elizabeth T; Lasseigne, Brittany N; Harris, Tim; Maniatis, Tom; Rouleau, Guy A; Brown, Robert H; Gitler, Aaron D; Myers, Richard M; Petrovski, Slavé; Allen, Andrew; Goldstein, David B; Harms, Matthew B.

Afiliação

Gelfman S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, 10032, USA.
Dugger S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, 10032, USA.
de Araujo Martins Moreno C; Department of Neurology, Columbia University Irving Medical Center, New York, New York 10032, USA.
Ren Z; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, 10032, USA.
Wolock CJ; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, 10032, USA.
Shneider NA; Department of Neurology, Columbia University Irving Medical Center, New York, New York 10032, USA.
Phatnani H; Motor Neuron Center, Columbia University Irving Medical Center, New York, New York 10032, USA.
Cirulli ET; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, 10032, USA.
Lasseigne BN; Department of Neurology, Columbia University Irving Medical Center, New York, New York 10032, USA.
Harris T; New York Genome Center, New York, New York 10013, USA.
Maniatis T; Human Longevity, Incorporated, San Diego, California 92121, USA.
Rouleau GA; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
Brown RH; SV Health Investors, Boston, Massachusetts 02108, USA.
Gitler AD; Department of Biochemistry and Molecular Biophysics, Columbia University Irving Medical Center, New York, New York 10032, USA.
Myers RM; Department of Neurology and Neurosurgery, McGill University, Montreal, H3A 2B4 Canada.
Petrovski S; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA.
Allen A; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.
Goldstein DB; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
Harms MB; Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne VIC 3050, Australia.

Genome Res ; 29(5): 809-818, 2019 05.

Article em En | MEDLINE | ID: mdl-30940688

Assuntos

Esclerose Lateral Amiotrófica/genética; Análise Mutacional de DNA/métodos; Predisposição Genética para Doença; Estudo de Associação Genômica Ampla/métodos; Feminino; Variação Genética; Humanos; Masculino; Mutação; Quinase 1 Relacionada a NIMA/genética; Domínios Proteicos/genética; Proteína FUS de Ligação a RNA/genética; Fatores de Risco; Superóxido Dismutase-1/genética; População Branca/genética; Sequenciamento do Exoma/métodos

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Predisposição Genética para Doença / Estudo de Associação Genômica Ampla / Esclerose Lateral Amiotrófica Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Genome Res Ano de publicação: 2019 Tipo de documento: Article

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