Exploring the use of molecular dynamics in assessing protein variants for phenotypic alterations [0.03%]
基于分子动力学的蛋白质突变体表型变化评估方法研究
Aditi Garg,Debnath Pal
Aditi Garg
With the advent of rapid sequencing technologies, making sense of all the genomic variations that we see among us has been a major challenge. A plethora of algorithms and methods exist that try to address genome interpretation through genot...
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay [0.03%]
集成多种表观遗传标记可提高饱和突变报告基因检测法预测变异影响的准确度
Dustin Shigaki,Orit Adato,Aashish N Adhikari et al.
Dustin Shigaki et al.
The integrative analysis of high-throughput reporter assays, machine learning, and profiles of epigenomic chromatin state in a broad array of cells and tissues has the potential to significantly improve our understanding of noncoding regula...
Comparative Study
Human mutation. 2019 Sep;40(9):1280-1291. DOI:10.1002/humu.23797 2019
Predicting the impact of single nucleotide variants on splicing via sequence-based deep neural networks and genomic features [0.03%]
基于序列的深度神经网络和基因组特征预测单核苷酸变异对剪接的影响
Tatsuhiko Naito
Tatsuhiko Naito
Single nucleotide mutations in exonic regions can significantly affect gene function through a disruption of splicing, and various computational methods have been developed to predict the splicing-related effects of a single nucleotide muta...
Using secondary structure to predict the effects of genetic variants on alternative splicing [0.03%]
利用二级结构预测基因变异对选择性拼接的影响
Robert Wang,Yaqiong Wang,Zhiqiang Hu
Robert Wang
Accurate interpretation of genomic variants that alter RNA splicing is critical to precision medicine. We present a computational framework, Prediction of variant Effect on Percent Spliced In (PEPSI), that predicts the splicing impact of co...
Characterization of human frataxin missense variants in cancer tissues [0.03%]
人癌症组织中frataxin错义突变的表征
Maria Petrosino,Alessandra Pasquo,Leonore Novak et al.
Maria Petrosino et al.
Human frataxin is an iron-binding protein involved in the mitochondrial iron-sulfur (Fe-S) clusters assembly, a process fundamental for the functional activity of mitochondrial proteins. Decreased level of frataxin expression is associated ...
Predicting the change of exon splicing caused by genetic variant using support vector regression [0.03%]
利用支持向量回归预测遗传变异引起的外显子拼接变化
Ken Chen,Yutong Lu,Huiying Zhao et al.
Ken Chen et al.
Alternative splicing can be disrupted by genetic variants that are related to diseases like cancers. Discovering the influence of genetic variations on the alternative splicing will improve the understanding of the pathogenesis of variants....
CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSplice [0.03%]
CAGI 2017 法兰挑战：用 MMSplice 改进外显子跳读和内含子滞留预测
Jun Cheng,Muhammed Hasan Çelik,Thi Yen Duong Nguyen et al.
Jun Cheng et al.
Pathogenic genetic variants often primarily affect splicing. However, it remains difficult to quantitatively predict whether and how genetic variants affect splicing. In 2018, the fifth edition of the Critical Assessment of Genome Interpret...
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus [0.03%]
四种新的ALG3-CDG患者的新型突变和临床症状，文献回顾以及识别具有丙氨酸和甘氨酸丰富N端的AAGRP-ALG3为一种新型ALG3变异型
Nastassja Himmelreich,Bianca Dimitrov,Virginia Geiger et al.
Nastassja Himmelreich et al.
ALG3-CDG is one of the very rare types of congenital disorder of glycosylation (CDG) caused by variants in the ER-mannosyltransferase ALG3. Here, we summarize the clinical, biochemical, and genetic data of four new ALG3-CDG patients, who we...
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site [0.03%]
NF1相关假关节：假关节以外的病变
Carlijn Brekelmans,Silke Hollants,Caroline De Groote et al.
Carlijn Brekelmans et al.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting approximately 1 in 2,000 newborns. Up to 5% of NF1 patients suffer from pseudarthrosis of a long bone (NF1-PA). Current treatments are often unsatisfactory, potentia...
A fully-automated event-based variant prioritizing solution to the CAGI5 intellectual disability gene panel challenge [0.03%]
全自动事件驱动的变异优先处理方法在CAGI5智力障碍基因板挑战中的应用
Jingqi Chen
Jingqi Chen
Recent applications of gene panel sequencing analysis have significantly helped with identifying genetic causes for inherited diseases. However, large amounts of candidate variants remain a major challenge for prioritizing, often requiring ...