Whole genome sequencing in psychiatric disorders: the WGSPD consortium.
Whole genome sequencing in psychiatric disorders: the WGSPD consortium.
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精神疾病的全基因组测序：WGSPD联盟。
DOI：
10.1038/s41593-017-0017-9
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发表时间：
2017-12
影响因子：
25
通讯作者：
Freimer NB
中科院分区：
文献类型：
--
作者：
Sanders SJ;Neale BM;Huang H;Werling DM;An JY;Dong S;Whole Genome Sequencing for Psychiatric Disorders (WGSPD);Abecasis G;Arguello PA;Blangero J;Boehnke M;Daly MJ;Eggan K;Geschwind DH;Glahn DC;Goldstein DB;Gur RE;Handsaker RE;McCarroll SA;Ophoff RA;Palotie A;Pato CN;Sabatti C;State MW;Willsey AJ;Hyman SE;Addington AM;Lehner T;Freimer NB
随着技术的进步，全基因组测序(WGS)很可能会取代其他基因分型技术。这一变化的速度取决于其相对成本和效用。通过WGS唯一识别的变体可能揭示复杂疾病背后的新生物途径，并提供高分辨率的洞察力，了解这些途径何时、何地以及在何种细胞类型中受到影响。或者，成本更低、计算密集度更低的方法可能会产生相同的见解。通过WGS试点项目，了解稀有变异在非编码基因调控基因组中的作用，对于确定这两个极端中哪一个最能代表现实至关重要。由于有大量的队列，明确定义的风险部位，以及迫切需要了解潜在的生物学，精神障碍在WGS的初步评估中发挥了作用。WGSPD联盟将整合18,000名精神障碍患者的数据，从自闭症谱系障碍、精神分裂症、双相情感障碍和严重抑郁障碍开始，以及超过150,000名对照组。
As technology advances, whole genome sequencing (WGS) is likely to supersede other genotyping technologies. The rate of this change depends on its relative cost and utility. Variants identified uniquely through WGS may reveal novel biological pathways underlying complex disorders and provide high-resolution insight into when, where, and in which cell type these pathways are affected. Alternatively, cheaper and less computationally intensive approaches may yield equivalent insights. Understanding the role of rare variants in the noncoding gene-regulating genome, through pilot WGS projects, will be critical to determine which of these two extremes best represents reality. With large cohorts, well-defined risk loci, and a compelling need to understand the underlying biology, psychiatric disorders have a role to play in this preliminary WGS assessment. The WGSPD consortium will integrate data for 18,000 individuals with psychiatric disorders, beginning with autism spectrum disorder, schizophrenia, bipolar disorder, and major depressive disorder, along with over 150,000 controls.
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影响因子：
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通讯作者：
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影响因子：
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