Advances in sequencing technologies for amyotrophic lateral sclerosis research.
Advances in sequencing technologies for amyotrophic lateral sclerosis research.
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DOI：
10.1186/s13024-022-00593-1
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发表时间：
2023-01-13
影响因子：
15.1
通讯作者：
中科院分区：
文献类型：
--
作者：
肌萎缩侧索硬化症（ALS）是由上下运动神经元缺失引起的，并且具有相当快的疾病进展，导致在症状发作后平均2-5年内死亡。许多基因与这种疾病有关;然而，许多病例仍然无法解释。几种技术正在被用于识别感兴趣的区域和研究候选基因。检测ALS基因的最初方法包括连锁分析、桑格测序和全基因组关联研究等。最近，已经引入了下一代测序方法，例如全外显子组和全基因组测序。虽然这些方法在发现新的ALS相关基因方面特别有用，但方法学的进步变得越来越重要，特别是考虑到ALS的复杂遗传学。新的测序技术，如长读测序，开始被用来揭示重复扩增和其他类型的结构变异的贡献，这可能有助于解释ALS中缺失的遗传性。在这篇综述中，我们讨论了如何流行和/或即将到来的方法被用来发现ALS基因，突出新兴的长读段测序平台及其在帮助我们了解这种具有挑战性的疾病中的作用。
Amyotrophic lateral sclerosis (ALS) is caused by upper and lower motor neuron loss and has a fairly rapid disease progression, leading to fatality in an average of 2-5 years after symptom onset. Numerous genes have been implicated in this disease; however, many cases remain unexplained. Several technologies are being used to identify regions of interest and investigate candidate genes. Initial approaches to detect ALS genes include, among others, linkage analysis, Sanger sequencing, and genome-wide association studies. More recently, next-generation sequencing methods, such as whole-exome and whole-genome sequencing, have been introduced. While those methods have been particularly useful in discovering new ALS-linked genes, methodological advances are becoming increasingly important, especially given the complex genetics of ALS. Novel sequencing technologies, like long-read sequencing, are beginning to be used to uncover the contribution of repeat expansions and other types of structural variation, which may help explain missing heritability in ALS. In this review, we discuss how popular and/or upcoming methods are being used to discover ALS genes, highlighting emerging long-read sequencing platforms and their role in aiding our understanding of this challenging disease.
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影响因子：
4.2
作者：
Borghero G;Pugliatti M;Marrosu F;Marrosu MG;Murru MR;Floris G;Cannas A;Occhineri P;Cau TB;Loi D;Ticca A;Traccis S;Manera U;Canosa A;Moglia C;Calvo A;Barberis M;Brunetti M;Gibbs JR;Renton AE;Errichiello E;Zoledziewska M;Mulas A;Qian Y;Din J;Pliner HA;Traynor BJ;Chiò A;ITALSGEN and SARDINALS Consortia
通讯作者：
ITALSGEN and SARDINALS Consortia
肌萎缩性侧硬化症中6,500个全基因组序列的结构变异分析。
影响因子：
5.3
作者：
Al Khleifat A;Iacoangeli A;van Vugt JJFA;Bowles H;Moisse M;Zwamborn RAJ;van der Spek RAA;Shatunov A;Cooper-Knock J;Topp S;Byrne R;Gellera C;López V;Jones AR;Opie-Martin S;Vural A;Campos Y;van Rheenen W;Kenna B;Van Eijk KR;Kenna K;Weber M;Smith B;Fogh I;Silani V;Morrison KE;Dobson R;van Es MA;McLaughlin RL;Vourc'h P;Chio A;Corcia P;de Carvalho M;Gotkine M;Panades MP;Mora JS;Shaw PJ;Landers JE;Glass JD;Shaw CE;Basak N;Hardiman O;Robberecht W;Van Damme P;van den Berg LH;Veldink JH;Al-Chalabi A
通讯作者：
Al-Chalabi A
影响因子：
3.7
作者：
Ardui S;Race V;de Ravel T;Van Esch H;Devriendt K;Matthijs G;Vermeesch JR
通讯作者：
Vermeesch JR
影响因子：
16.6
作者：
Byrne A;Beaudin AE;Olsen HE;Jain M;Cole C;Palmer T;DuBois RM;Forsberg EC;Akeson M;Vollmers C
通讯作者：
Vollmers C
影响因子：
16.6
作者：
Bowden, Rory;Davies, Robert W.;Donnelly, Peter
通讯作者：
Donnelly, Peter