NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
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DOI：
10.1016/j.neurobiolaging.2017.05.009
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发表时间：
2017-09
影响因子：
4.2
通讯作者：
Scholz SW
中科院分区：
文献类型：
--
作者：
Blauwendraat C;Faghri F;Pihlstrom L;Geiger JT;Elbaz A;Lesage S;Corvol JC;May P;Nicolas A;Abramzon Y;Murphy NA;Gibbs JR;Ryten M;Ferrari R;Bras J;Guerreiro R;Williams J;Sims R;Lubbe S;Hernandez DG;Mok KY;Robak L;Campbell RH;Rogaeva E;Traynor BJ;Chia R;Chung SJ;International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium;Hardy JA;Brice A;Wood NW;Houlden H;Shulman JM;Morris HR;Gasser T;Krüger R;Heutink P;Sharma M;Simón-Sánchez J;Nalls MA;Singleton AB;Scholz SW
遗传学已被证明是神经退行性疾病研究中的一种强有力的方法，导致识别出许多因果和风险变异。此前，我们介绍了NeuroX Illumina基因分型阵列，这是一个快速高效的基因分型平台，旨在研究神经退行性疾病的遗传变异。在这里，我们介绍它的更新版，名为神经芯片。神经芯片是一种低成本、定制设计的阵列，包含约306,670个变体的标记变体主干，并辅之以手动管理的定制内容，其中179,467个变体与多种神经系统疾病有关，包括阿尔茨海默病、帕金森病、路易体痴呆、肌萎缩侧索硬化症、额颞痴呆、进行性核上性瘫痪、皮质基底性变性和多系统萎缩。选择标签主干是因为低成本和良好的全基因组分辨率；定制内容可以与其他主干相结合，如人口或药物开发阵列。使用神经芯片，我们可以准确地识别罕见的变异，并从最新发布的单倍型参考联盟中推测出超过530万个常见的SNP。综上所述，我们描述了神经芯片阵列的设计和使用，并展示了它在许多神经退行性疾病中检测罕见致病变异的能力。该神经芯片具有更全面和改进的内容，使其成为神经退行性疾病基因研究和分子诊断的可靠、高通量、高性价比的筛查工具。
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, cost-effective screening tool for genetic research and molecular diagnostics in neurodegenerative diseases.
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影响因子：
16.2
作者：
Singleton A;Hardy J
通讯作者：
Hardy J
使用神经阵列的散发性早期阿尔茨海默氏病的突变分析。
影响因子：
4.2
作者：
Barber IS;Braae A;Clement N;Patel T;Guetta-Baranes T;Brookes K;Medway C;Chappell S;Guerreiro R;Bras J;Hernandez D;Singleton A;Hardy J;Mann DM;ARUK Consortium;Morgan K
通讯作者：
Morgan K
影响因子：
30.8
作者：
Das, Sayantan;Forer, Lukas;Schoenherr, Sebastian;Sidore, Carlo;Locke, Adam E.;Kwong, Alan;Vrieze, Scott I.;Chew, Emily Y.;Levy, Shawn;McGue, Matt;Schlessinger, David;Stambolian, Dwight;Loh, Po-Ru;Iacono, William G.;Swaroop, Anand;Scott, Laura J.;Cucca, Francesco;Kronenberg, Florian;Boehnke, Michael;Abecasis, Goncalo R.;Fuchsberger, Christian
通讯作者：
Fuchsberger, Christian
影响因子：
14.8
作者：
Kumar, Prateek;Henikoff, Steven;Ng, Pauline C.
通讯作者：
Ng, Pauline C.
影响因子：
9.2
作者：
Chang CC;Chow CC;Tellier LC;Vattikuti S;Purcell SM;Lee JJ
通讯作者：
Lee JJ