Results 121 to 130 of about 120,949 (314)

VariantAlert: A web‐based tool to notify updates in genetic variant annotations

Human Mutation, Volume 43, Issue 12, Page 1808-1815, December 2022., 2022
Abstract The reinterpretation of variants based on updated annotations is part of the routine work of research laboratories: the more data is collected about a specific variant, the higher the probability to reinterpret its classification. To support this task, we developed VariantAlert, a web‐based tool to help researchers and clinicians to be ...
Rossano Atzeni, Matteo Massidda, Giorgio Fotia, Paolo Uva   +3 more
wiley   +1 more source

Development of a single‐nucleotide polymorphism panel genotyping system for genetic analysis of Chinese hamsters

Animal Models and Experimental Medicine, EarlyView.
Here, we developed a novel Chinese hamster genetic quality detection system using single‐nucleotide polymorphism (SNP) markers following this process. To obtain SNP loci, we conducted whole genome sequencing on 24 Chinese hamsters. Then, we employed an SNP loci screening criterion that we set up previously and initially screened 214 SNP loci with wide ...
Minghe Sun, Yafang Guo, Zhengnan Ren, Ang Song, Jing Lu, Changlong Li, Jianyi Lv, Meng Guo, Xin Liu, Xiaoyan Du, Zhaoyang Chen, Guohua Song, Yan He, Zhenwen Chen, Xueyun Huo   +14 more
wiley   +1 more source

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Human Mutation, Volume 43, Issue 12, Page 1872-1881, December 2022., 2022
Abstract ABCC6 promotes ATP efflux from hepatocytes to bloodstream. ATP is metabolized to pyrophosphate, an inhibitor of ectopic calcification. Pathogenic variants of ABCC6 cause pseudoxanthoma elasticum, a highly variable recessive ectopic calcification disorder.
Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Beatrix Molnar, Qiaoli Li, Sharon F. Terry, Federica Boraldi, Jouni Uitto, Koen van de Wetering, Ludovic Martin, Daniela Quaglino, Olivier M. Vanakker, Kalman Tory, Tamas Aranyi   +15 more
wiley   +1 more source

Comparing the performances of SSR and SNP markers for population analysis in Theobroma cacao L., as alternative approach to validate a new ddRADseq protocol for cacao genotyping.

PLoS ONE
Proper cacao (Theobroma cacao L.) plant genotyping is mandatory for the conservation and use of the species genetic resources. A set of 15 international standard SSR markers was assumed as universal cacao genotyping system.
Angel Rafael Ramirez-Ramirez, Igor Bidot-Martínez, Khaled Mirzaei, Onisoa Léa Rasoamanalina Rivo, Miguel Menéndez-Grenot, Pablo Clapé-Borges, Georgina Espinosa-Lopez, Pierre Bertin   +7 more
doaj   +1 more source

Highly-multiplexed SNP genotyping for genetic mapping and germplasm diversity studies in pea

BMC Genomics, 2010
Background Single Nucleotide Polymorphisms (SNPs) can be used as genetic markers for applications such as genetic diversity studies or genetic mapping. New technologies now allow genotyping hundreds to thousands of SNPs in a single reaction.
Deulvot Chrystel, Charrel Hélène, Marty Amandine, Jacquin Françoise, Donnadieu Cécile, Lejeune-Hénaut Isabelle, Burstin Judith, Aubert Grégoire   +7 more
doaj   +1 more source

Modeling Sporadic Progressive Supranuclear Palsy in 3D Midbrain Organoids: Recapitulating Disease Features for In Vitro Diagnosis and Drug Discovery

Annals of Neurology, EarlyView.
Objective Progressive Supranuclear Palsy (PSP) is a severe neurodegenerative disease characterized by tangles of hyperphosphorylated tau protein and tufted astrocytes. Developing treatments for PSP is challenging due to the lack of disease models reproducing its key pathological features.
Elvira Immacolata Parrotta, Valeria Lucchino, Clara Zannino, Desirèe Valente, Stefania Scalise, Davide Bressan, Giorgia Lucia Benedetto, Maria Roberta Iazzetta, Mariagrazia Talarico, Monica Gagliardi, Francesco Conforti, Silvia Di Agostino, Alessandro Fiorenzano, Aldo Quattrone, Giovanni Cuda, Andrea Quattrone   +15 more
wiley   +1 more source

IPGA: A handy integrated prokaryotes genome and pan‐genome analysis web service

iMeta, Volume 1, Issue 4, December 2022., 2022
Integrated Prokaryotes Genome and pan‐genome Analysis (IPGA) serves as a free and easy‐to‐use web‐based system that could provide up‐to‐date pan‐genome analysis service for non‐bioinformaticians. IPGA offers users the most reliable pan‐genome profile which enables users to perform additional comparative genomic analysis.
Dongmei Liu, Yifei Zhang, Guomei Fan, Dingzhong Sun, Xingjiao Zhang, Zhengfei Yu, Jinfeng Wang, Linhuan Wu, Wenyu Shi, Juncai Ma   +9 more
wiley   +1 more source

Combining genotyping approaches improves resolution for association mapping: a case study in tropical maize under water stress conditions

Frontiers in Plant Science
Genome-wide Association Studies (GWAS) identify genome variations related to specific phenotypes using Single Nucleotide Polymorphism (SNP) markers. Genotyping platforms like SNP-Array or sequencing-based techniques (GBS) can genotype samples with many ...
Fernanda Carla Ferreira de Pontes, Ingrid Pinheiro Machado, Maria Valnice de Souza Silveira, Antônio Lucas Aguiar Lobo, Felipe Sabadin, Roberto Fritsche-Neto, Júlio César DoVale   +6 more
doaj   +1 more source

Accurate Genomic Prediction Of Human Height [PDF]

arXiv, 2017
We construct genomic predictors for heritable and extremely complex human quantitative traits (height, heel bone density, and educational attainment) using modern methods in high dimensional statistics (i.e., machine learning). Replication tests show that these predictors capture, respectively, $\sim$40, 20, and 9 percent of total variance for the ...
arxiv  

Parallel Genotyping of Human SNPs Using Generic High-density Oligonucleotide Tag Arrays [PDF]

, 2000
Jian-Bing Fan, Xiaoqiong Chen, Marc K. Halushka, Anthony Berno, Xiaohua Huang, Thomas B. Ryder, Robert J. Lipshutz, David J. Lockhart, Aravinda Chakravarti   +8 more
openalex   +1 more source