期刊
NEUROBIOLOGY OF AGING
卷 57, 期 -, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2017.05.009
关键词
Genotyping; NeuroX; NeuroChip; Genetic screening; Neurodegeneration
资金
- Intramural Research Programs of the National Institute of Neurological Disorders and Stroke (NINDS)
- National Institute on Aging (NIA), National Institutes of Health, Department of Health and Human Services [Z01-AG000949-02, Z01-ES101986, ZIANS003154]
- NIGMS through trans-NIH big data to Knowledge (BD2K) initiative [1U54GM114838]
- German Federal Ministry of Education and Research [031 A 430 A]
- EU Joint Programme for Neurodegenerative Disease Research (JPND)
- Parkinson's UK [8047, J-0804]
- Medical Research Council [G0700943, G1100643]
- Huffington Foundation
- Career Award for Medical Scientists from the Burroughs Wellcome Fund
- National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services [Z01-AG000949-02, Z01-ES101986, 1ZIANS003154]
- MRC [MR/L023784/2, MR/L023784/1, G0700943, G0300429, MC_PC_09003, MR/K01417X/1, G1100643, MR/N008324/1, G0802462] Funding Source: UKRI
- Alzheimers Research UK [ARUK-PG2014-1] Funding Source: researchfish
- Medical Research Council [MR/L023784/1, G1100643, MR/N008324/1, G0700943, MR/L501554/1, G0802462, MC_PC_09003, MR/K01417X/1, G0300429, MR/L023784/2] Funding Source: researchfish
- Muscular Dystrophy UK [16GRO-PS36-0055] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0515-10082, ACF-2012-17-017, NF-SI-0507-10376, NF-SI-0513-10064] Funding Source: researchfish
- Parkinson's UK [K-1501, G-1107, J-0804] Funding Source: researchfish
Genetics has proven to be a powerful approach in neurodegenerative diseases research, resulting in the identification of numerous causal and risk variants. Previously, we introduced the NeuroX Illumina genotyping array, a fast and efficient genotyping platform designed for the investigation of genetic variation in neurodegenerative diseases. Here, we present its updated version, named NeuroChip. The NeuroChip is a low-cost, custom-designed array containing a tagging variant backbone of about 306,670 variants complemented with a manually curated custom content comprised of 179,467 variants implicated in diverse neurological diseases, including Alzheimer's disease, Parkinson's disease, Lewy body dementia, amyotrophic lateral sclerosis, frontotemporal dementia, progressive supranuclear palsy, corticobasal degeneration, and multiple system atrophy. The tagging backbone was chosen because of the low cost and good genome-wide resolution; the custom content can be combined with other backbones, like population or drug development arrays. Using the NeuroChip, we can accurately identify rare variants and impute over 5.3 million common SNPs from the latest release of the Haplotype Reference Consortium. In summary, we describe the design and usage of the NeuroChip array and show its capability for detecting rare pathogenic variants in numerous neurodegenerative diseases. The NeuroChip has a more comprehensive and improved content, which makes it a reliable, high-throughput, costeffective screening tool for genetic research and molecular diagnostics in neurodegenerative diseases. Published by Elsevier Inc.
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