ASiDentify (ASiD): A Machine Learning Model to Predict New Autism Spectrum Disorder Risk Genes [0.03%]
ASiDentify(ASiD):预测新的自闭症谱系障碍风险基因的机器学习模型
Katherine M Rynard,Kara Han,Michael Wainberg et al.
Katherine M Rynard et al.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects nearly 3% of children and has a strong genetic component. While hundreds of ASD risk genes have been identified through sequencing studies, the genetic heterogenei...
Mustafa İsmail Özkaraca,Mulya Agung,Pau Navarro et al.
Mustafa İsmail Özkaraca et al.
Genome-wide association studies (GWAS) are computationally intensive, requiring significant time and resources with computational complexity scaling at least linearly with sample size. Here, we present an accurate and resource-efficient pip...
Neuron-specific repression of alternative splicing by the conserved CELF protein UNC-75 in C. elegans [0.03%]
在线虫中保守的CELF蛋白UNC-75特异性抑制神经元的可变剪切
Pallavi Pilaka-Akella,Nour H Sadek,Daniel Fusca et al.
Pallavi Pilaka-Akella et al.
Tissue-regulated alternative exons are dictated by the interplay between cis-elements and trans-regulatory factors such as RNA binding proteins. Despite extensive research on splicing regulation, the full repertoire of these cis and trans f...
Patterns of crossover distribution in Drosophila mauritiana necessitate a re-thinking of the centromere effect on crossing over [0.03%]
Drosophila mauritiana中交叉分布的模式需要重新思考着丝粒对交叉的影响
R Scott Hawley,Andrew Price,Hua Li et al.
R Scott Hawley et al.
We present a SNP-based crossover map for Drosophila mauritiana. Using females derived by crossing two different strains of D. mauritiana, we analyzed crossing over on all five major chromosome arms. Analysis of 105 male progeny allowed us t...
The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics [0.03%]
统一表型本体(uPheno):跨物种综合表型组学的框架
Nicolas Matentzoglu,Susan M Bello,Ray Stefancsik et al.
Nicolas Matentzoglu et al.
Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a century, vast quantities of...
Evaluating ARG-estimation methods in the context of estimating population-mean polygenic score histories [0.03%]
在估计人群平均多基因分数历史的背景下评估ARG估计算法
Dandan Peng,Obadiah J Mulder,Michael D Edge
Dandan Peng
Scalable methods for estimating marginal coalescent trees across the genome present new opportunities for studying evolution and have generated considerable excitement, with new methods extending scalability to thousands of samples. Benchma...
Posterior estimation of longitudinal variance components from non-longitudinal data using Bayesian Gaussian process model [0.03%]
利用贝叶斯高斯过程模型从非纵向数据中估计纵向方差分量的后验分布
Arttu Arjas,Kalle Leppälä,Mikko J Sillanpää
Arttu Arjas
Many quantitative traits can be measured from a single individual only once, making acquisition of longitudinal data impossible. In this paper we present GP-REBE (Gaussian Process Restricted Bayesian Estimation), a new method tailored for e...
Error rates in QST-FST comparisons depend on genetic architecture and estimation procedures [0.03%]
QST-FST比较中的误差率取决于遗传结构和估算程序
Junjian J Liu,Michael D Edge
Junjian J Liu
Genetic and phenotypic variation among populations is one of the fundamental subjects of evolutionary genetics. One question that arises often in data on natural populations is whether differentiation among populations on a particular trait...
Complex determinants of R-loop formation at transposable elements and major DNA satellites [0.03%]
可移动元素和主要DNA卫星上R环形成的复杂决定因素
Timothy J Stanek,Adam Kneebone,Matthew A Lawlor et al.
Timothy J Stanek et al.
Aberrant activation of transposable elements (TEs) has been a well-documented source of genomic instability and disease, stemming from their insertion into genes and their imposition of epigenetic effects on nearby loci. However, the extent...
Season-specific dominance broadly stabilizes polymorphism under symmetric and asymmetric multivoltinism [0.03%]
季节特异性的优势广泛地在对称和非对称多voltinism下稳定了复等位基因的共存
Evgeny Brud
Evgeny Brud
Seasonality causes intraannual fitness changes in multivoltine populations (defined as having multiple generations per year). While it is well-known that seasonally balanced polymorphism can be established by overdominance in geometric mean...