Exome Sequencing of Extended Families with Alzheimer’s Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function | Zendy

Holly N. Cukier | Zendy; B K Kunkle | Zendy; Karyn L. Hamilton | Zendy; Sophie Rolati | Zendy; M. A. Kohli | Zendy; Patrice L. Whitehead | Zendy; James Jaworski | Zendy; Jeffery M. Vance | Zendy; Michael L. Cuccaro | Zendy; Robert M. Carney | Zendy; John R. Gilbert | Zendy; Lindsay A. Farrer | Zendy; Eden R. Martin | Zendy; G W Beecham | Zendy; Jonathan L. Haines | Zendy; Margaret A PericakVance | Zendy

Open Access

Exome Sequencing of Extended Families with Alzheimer’s Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function

Author(s) -

Holly N. Cukier,

B K Kunkle,

Karyn L. Hamilton,

Sophie Rolati,

M. A. Kohli,

Patrice L. Whitehead,

James Jaworski,

Jeffery M. Vance,

Michael L. Cuccaro,

Robert M. Carney,

John R. Gilbert,

Lindsay A. Farrer,

Eden R. Martin,

G W Beecham,

Jonathan L. Haines,

Margaret A PericakVance

Publication year - 2017

Publication title -

journal of alzheimer’s disease and parkinsonism

Language(s) - English

Resource type - Journals

ISSN - 2161-0460

DOI - 10.4172/2161-0460.1000355

Subject(s) - exome sequencing , biology , trem2 , genetics , psen1 , gene , nonsynonymous substitution , exome , genetic linkage , loss function , candidate gene , disease , alzheimer's disease , mutation , genome , phenotype , presenilin , medicine , receptor , myeloid cells , pathology

Alzheimer's disease (AD) is a neurodegenerative disorder for which more than 20 genetic loci have been implicated to date. However, studies demonstrate not all genetic factors have been identified. Therefore, in this study we seek to identify additional rare variants and novel genes potentially contributing to AD.

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