Results 41 to 50 of about 213,884 (275)

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Nucleic Acids Research, 2010
High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally important variants.
Kai Wang, Mingyao Li, H. Hakonarson
semanticscholar   +1 more source

Genes Associated with Coma or Recurrent Coma and Role of Next Generation Sequencing in Diagnosis of Disease-Causing Genes

Medical Laboratory Journal, 2022
Coma is a state of prolonged unconsciousness. Some coma cases result from inherited disorders such as fatty-acid β-oxidation disorder, acute intermittent porphyria (due to mutations in genes CPT I, CPTII and ACADM), urea cycle defects (due to mutation in
fatemeh asadi, hamedreza goodarzi, javad zahiri, mojtaba jafarinia   +3 more
doaj  

Identification of New Single Nucleotide Polymorphisms Potentially Related to Small Ruminant Lentivirus Infection Susceptibility in Goats Based on Data Selected from High-Throughput Sequencing

Pathogens
Small ruminant lentivirus (SRLV) infections are spread in the flocks of sheep and goats all over the world, causing economic loss. Although only a fraction of infected animals develop disease symptoms, all of them may shed the virus, causing uncontrolled spread of the infection.
Magdalena Materniak-Kornas, Katarzyna Ropka‐Molik, Katarzyna Piórkowska, Joanna Kowalik, Tomasz Szmatoła, Jacek Sikora, Aldona Kawęcka, Jacek Kuźmak   +7 more
openalex   +4 more sources

DUDE-Seq: Fast, flexible, and robust denoising for targeted amplicon sequencing. [PDF]

PLoS ONE, 2017
We consider the correction of errors from nucleotide sequences produced by next-generation targeted amplicon sequencing. The next-generation sequencing (NGS) platforms can provide a great deal of sequencing data thanks to their high throughput, but the ...
Byunghan Lee, Taesup Moon, Sungroh Yoon, Tsachy Weissman   +3 more
doaj   +1 more source

Intervention of next-generation sequencing in diagnosis of Alzheimer’s disease: challenges and future prospects [PDF]

Dementia & Neuropsychologia, 2023
Clinical diagnosis of several neurodegenerative disorders based on clinical phenotype is challenging due to its heterogeneous nature and overlapping disease manifestations.
Tijimol Chandy
doaj   +1 more source

Melon Transcriptome Characterization: Simple Sequence Repeats and Single Nucleotide Polymorphisms Discovery for High Throughput Genotyping across the Species [PDF]

The Plant Genome, 2011
Melon (Cucumis melo L.) ranks among the highest-valued fruit crops worldwide. Some genomic tools are available for this crop, including a Sanger transcriptome. We report the generation of 689,054 C. melo high-quality expressed sequence tags (ESTs) from two 454 sequencing runs, using normalized and nonnormalized complementary DNA (cDNA) libraries ...
Blanca Postigo, José Miguel, Cañizares Sales, Joaquín, Ziarsolo Areitioaurtena, Pello, Esteras Gómez, Cristina, Mir, Gisela, Nuez Viñals, Fernando, Garcia-Mas, Jordi, Picó Sirvent, María Belén   +7 more
openaire   +4 more sources

GlobalFungi, a global database of fungal occurrences from high-throughput-sequencing metabarcoding studies

Scientific Data, 2020
Fungi are key players in vital ecosystem services, spanning carbon cycling, decomposition, symbiotic associations with cultivated and wild plants and pathogenicity.
T. Větrovský, D. Morais, P. Kohout, C. Lepinay, Camelia Algora, Sandra Awokunle Hollá, B. Bahnmann, Květa Bílohnědá, Vendula Brabcová, Federica D’Alò, Z. Human, M. Jomura, M. Kolařík, Jana Kvasničková, S. Lladó, R. López-Mondéjar, Tijana Martinović, T. Mašínová, L. Mészárošová, Lenka Michalčíková, Tereza Michalová, S. Mundra, Diana Navrátilová, I. Odriozola, Sarah Piché-Choquette, Martina Štursová, K. Švec, Vojtěch Tláskal, M. Urbanová, Lukáš Vlk, Jana Voříšková, Lucia Žifčáková, P. Baldrian   +32 more
semanticscholar   +1 more source

High‐throughput capture of nucleotide sequence polymorphisms in three Brassica species (Brassicaceae) using DNA microarrays [PDF]

American Journal of Botany, 2012
• Premise of the study: To capture molecular markers that are applicable to environmental risk assessment of genetically modified oilseed rape, and to streamline their development, we screened variations in nucleotide sequences of three Brassica species by DNA microarray analysis.• Methods and Results: Using the Affymetrix GeneChip Arabidopsis ATH1 ...
Nobuyoshi Nakajima, Akihiro Kubo, Masanori Tamaoki, Yukio Kaneko, Hikaru Saji, Toru Nishizawa, Mitsuko Aono   +6 more
openaire   +3 more sources

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Human Mutation, 2020
Congenital limb malformations (CLM) comprise many conditions affecting limbs and more than 150 associated genes have been reported. Due to this large heterogeneity, a high proportion of patients remains without a molecular diagnosis.
A. Jourdain, F. Petit, M. Odou, M. Balduyck, Perrine Brunelle, William Dufour, S. Boussion, E. Brischoux-Boucher, C. Colson, A. Dieux, M. Gérard, J. Ghoumid, F. Giuliano, A. Goldenberg, Philippe Khau Van Kien, D. Lehalle, G. Morin, S. Moutton, Thomas Smol, C. Vanlerberghe, S. Manouvrier-Hanu, F. Escande   +21 more
semanticscholar   +1 more source

Genome‐wide association analysis of sucrose concentration in soybean (Glycine max L.) seed based on high‐throughput sequencing

The Plant Genome, 2020
The sucrose concentration in soybean seed significantly affects the flavor of soybean‐derived products. In this study, an association panel of 178 elite accessions and 33,149 single‐nucleotide polymorphisms (SNPs) was utilized to identify quantitative ...
M. Sui, Yue Wang, Yuyue Bao, Xi Wang, Ruiqiong Li, Yan Lv, Ming Yan, Chaoqun Quan, Chunxia Li, W. Teng, Wenbin Li, Xue Zhao, Yingpeng Han   +12 more
semanticscholar   +1 more source