A copy number variation detection method based on OCSVM algorithm using multi strategies integration by Mengjiao Zhou, Jinxin Dong, Hua Jiang, Zuyao Zhao, Tianting Yuan

“…It uses split read signals to determine the precise location of mutation points and to determine the type of variation. …”
Get full text

Multidimensional Analysis of PANoptosis-Related Molecule CASP8: Prognostic Significance, Immune Microenvironment Effect, and Therapeutic Implications in Hepatocellular Carcinoma by Fei Peng, Fang Zhu, Baodi Cao, Liang Peng

“…A nomogram plot was developed for better clinical prognostication. Mutation analysis indicated a higher frequency of TP53 mutations in patients with elevated CASP8 expression. …”
Get full text

Spectral Quantitative Analysis Model with Combining Wavelength Selection and Topology Structure Optimization by Qian Wang, Boyan Cai, Yajie Yu, Hui Cao

“…The first part represents the topology structure of neural network, the second part represents the selection of wavelengths in the spectral data, and the third part represents the parameters of mutation of NAEP. Two real flue gas datasets are used in the experiments. …”
Get full text

Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases by Wenbo Wang, Qichang Wu, Li Sun, Xiaohong Zhong, Yasong Xu, Xiaojian Xie, Zhiying Su

“…Results. A causative mutation in the COL2A1 gene was found in both patients. …”
Get full text

A Novel Discrete Global-Best Harmony Search Algorithm for Solving 0-1 Knapsack Problems by Wan-li Xiang, Mei-qing An, Yin-zhen Li, Rui-chun He, Jing-fang Zhang

“…Next, we present a novel improvisation process based on intuitive cognition of improvising a new harmony, in which the best harmony of harmony memory (HM) is used to guide the searching direction of evolution during the process of memory consideration, or else a harmony is randomly chosen from HM and then a discrete genetic mutation is done with some probability during the phase of pitch adjustment. …”
Get full text

An approximate likelihood method reveals ancient gene flow between human, chimpanzee and gorilla by Galtier, Nicolas

“…Accounting for the among-loci variance in mutation rate and gene flow time, Aphid returns estimates of the speciation times and ancestral effective population size, and a posterior assessment of the contribution of gene flow and incomplete lineage sorting to the conflict. …”
Get full text

Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center by Hajji Meriam, Asma Bettaieb, Hayet Kaaroud, Fethi Ben Hamida, Taher Gargeh, Ridha Mrad, Kahena Bouzid, Ezzeddine Abderrahim

“…The genetic study found the I244T mutation in 17 cases and 33-34 InsC in 4 cases. A kidney biopsy was performed in 5 cases, on a native kidney in 4 cases and on a graft biopsy in one case. …”
Get full text

Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases by Virang Kumar, Natario L. Couser, Arti Pandya

“…There were 73 different GJA1 mutations associated with these cases, of which the most common were the following missense mutations: c.605G>A (p.R202H) (11%), c.389T>C (p.I130T) (10%), and c.119C>T (p.A40V) (10%). …”
Get full text

Three-Dimensional Nonlinear Seismic Response of Shield Tunnel Spatial End Structure by Yijing Lu, Yongsheng Song, Yanzhen Wang, Jiale Yuan

“…The stiffness mutation of shield tunnel-shaft junction makes the tunnel structure affected by the differential displacement and forms a complex spatial effect. …”
Get full text

Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis by Kimia Najafi, Roxana Kariminejad, Kaveh Hosseini, Azadeh Moshtagh, Gole Maryam Abbassi, Neda Sadatian, Masood Bazrgar, Ariana Kariminejad, Mohamad Hassan Kariminejad

“…Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly, nystagmus, and spastic paraplegia. …”
Get full text

Application of Proteomics to Inflammatory Bowel Disease Research: Current Status and Future Perspectives by Arash Assadsangabi, Caroline A. Evans, Bernard M. Corfe, Alan Lobo

“…This is because the presence of a given gene mutation does not automatically correspond to changes in its expression or final metabolic or structural effect(s). …”
Get full text

Calculation of the Instream Ecological Flow of the Wei River Based on Hydrological Variation by Shengzhi Huang, Jianxia Chang, Qiang Huang, Yimin Wang, Yutong Chen

“…Moreover, the heuristic segmentation algorithm that is suitable to detect the mutation points of flow series is employed to identify the change points. …”
Get full text

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency by N. H. Birkebæk, J. S. Sørensen, J. Vikre-Jørgensen, P. K. A. Jensen, O. Pedersen, T. Hansen

“…This case underscores the importance of a MLPA examination if the phenotype of a patient is strongly indicative of GCK insufficiency and no mutation is identified using direct sequencing.…”
Get full text

Untethering the Nuclear Envelope and Cytoskeleton: Biologically Distinct Dystonias Arising from a Common Cellular Dysfunction by Nadia A. Atai, Scott D. Ryan, Rashmi Kothary, Xandra O. Breakefield, Flávia C. Nery

“…Most cases of early onset DYT1 dystonia in humans are caused by a GAG deletion in the TOR1A gene leading to loss of a glutamic acid (ΔE) in the torsinA protein, which underlies a movement disorder associated with neuronal dysfunction without apparent neurodegeneration. Mutation/deletion of the gene (Dst) encoding dystonin in mice results in a dystonic movement disorder termed dystonia musculorum, which resembles aspects of dystonia in humans. …”
Get full text

Identification and validation of TSPAN13 as a novel temozolomide resistance-related gene prognostic biomarker in glioblastoma. by Haofei Wang, Zhen Liu, Zesheng Peng, Peng Lv, Peng Fu, Xiaobing Jiang

“…Functional enrichment and mutation analyses were conducted to explore the underlying mechanisms of the risk score and its relationship with immune cell infiltration levels in GBM. …”
Get full text

Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report by Deniz Çetin, Mustafa Ünübol, Aykut Soyder, Engin Güney, Adil Coşkun, Serdar Özbaş, Alparslan Ünsal, Muhan Erkuş

“…Our case had a RET protooncogene mutation ser836 polymorphism in exon 14 and ser904 polymorphism in exon 15. …”
Get full text

An Optimized Sanitization Approach for Minable Data Publication by Fan Yang, Xiaofeng Liao

“…Specifically, we take advantage of PSO to produce new particles, which is achieved by random mutation or learning from the best particle. Hence, SA-MDP can avoid the solutions being trapped into local optima. …”
Get full text

A Hybrid Maximum Power Point Tracking Approach for Photovoltaic Systems under Partial Shading Conditions Using a Modified Genetic Algorithm and the Firefly Algorithm by Yu-Pei Huang, Xiang Chen, Cheng-En Ye

“…In this study, we simplified the GA calculations with the integration of the DE mutation process and FA attractive process. Results from both the simulation and evaluation verify that the proposed algorithm provides rapid response time and high accuracy due to the simplified processing. …”
Get full text

Improving molecular subtypes and prognosis of pancreatic cancer through multi group analysis and machine learning by Xue-Jian Zhang, Fang-Fang Lin, Ya-Qing Wen, Kun-Ping Guan

“…The prognosis for the high CMLS group was dismal. Still, the tumor mutation burden (TMB) and tumor neoantigen burden (TNB) levels in this group of patients were higher than in the low CMLS group, which were more favorable for immune therapy response. …”
Get full text

Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report by Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto, Yuishin Izumi

“…Abstract Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). …”
Get full text