Results 11 to 20 of about 348,102 (219)

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

Genome Biology, 2019
Background Structural variations (SVs) or copy number variations (CNVs) greatly impact the functions of the genes encoded in the genome and are responsible for diverse human diseases.
Shunichi Kosugi, Yukihide Momozawa, Xiaoxi Liu, Chikashi Terao, Michiaki Kubo, Yoichiro Kamatani   +5 more
doaj   +1 more source

The Polymorphism of Pituitary Factor 1 (POU1F1) in Cattle

Scientific Papers Animal Science and Biotechnologies, 2023
The development and function of mammary gland is mainly controlled by growth hormone and prolactin, two protein hormones secreted by the anterior pituitary gland.
Teodora Crina Carsai, Valentin Adrian Balteanu, Augustin Vlaic, Viorica Cosier   +3 more
doaj  

Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling

Stem Cell Research, 2019
Dermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus. The generated
Arantxa Bolinches-Amorós, Marian León, Verónica del Buey Furió, Gemma Marfany, Roser Gonzàlez-Duarte, Slaven Erceg, Dunja Lukovic   +6 more
doaj   +1 more source

VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy

BMC Bioinformatics, 2017
Background The possibility of integrating viral vectors to become a persistent part of the host genome makes them a crucial element of clinical gene therapy.
José M. Juanes, Asunción Gallego, Joaquín Tárraga, Felipe J. Chaves, Pablo Marín-Garcia, Ignacio Medina, Vicente Arnau, Joaquín Dopazo   +7 more
doaj   +1 more source

Genotyping

Egyptian Journal of Aquatic Research, 2014
Culture-independent 16S rRNA gene analysis approach was used to explore and evaluate archaea in a polluted site, El-Zeitia, Suez Gulf, Egypt. Metagenomic DNA was extracted from a sediment sample.
Hosam Easa Elsaied
doaj   +1 more source

Phenotypic screening and molecular characterization of cassava mosaic disease resistance in Côte d'Ivoire cassava germplasm

Frontiers in Sustainable Food Systems, 2023
Cassava is the staple food crop for hundreds of millions of people in Africa. In Côte d'Ivoire, it is a main source of calories for over 26 million people.
William J-L. Amoakon, William J-L. Amoakon, Mariam Combala, Mariam Combala, Justin S. Pita, Justin S. Pita, J. Musembi Mutuku, Boni N'Zué, Daniel H. Otron, Daniel H. Otron, Edwige F. Yéo, Edwige F. Yéo, Nazaire K. Kouassi, Nazaire K. Kouassi, Raoul Sié   +14 more
doaj   +1 more source

Tetra‐primer amplification refractory mutation system (ARMS) PCR used to detect 3’UTR rs1948 mutation in CHRNB4

Indonesian Journal of Biotechnology, 2022
Rs1948 A>G is a single nucleotide variation (SNV) in the 3’‐UTR of CHRNB4. Genotyping the synonymous CHRNB4 rs1948 may be useful in identifying a lung cancer susceptibility gene.
Anggi Laksmita Dewi, Dewi Kartikawati Paramita, Jajah Fachiroh   +2 more
doaj   +1 more source

Comparison of genotyping methods and toxin gene profiles of Staphylococcus aureus isolates from clinical specimens [PDF]

Genetics and Molecular Biology, 2023
Staphylococcus aureus is a frequent cause of infections worldwide. Methicillin-resistant S. aureus (MRSA) is one of the main causes of Gram-positive infections, and methicillin-susceptible strains (MSSA) primarily colonize and infect community hosts ...
Mariana Andrade-Figueiredo, Ana Carolina de Oliveira Luz, Vladimir da Mota Silveira Filho, Tereza Cristina Leal-Balbino   +3 more
doaj   +1 more source

Pooled DNA genotyping on Affymetrix SNP genotyping arrays

BMC Genomics, 2006
Background Genotyping technology has advanced such that genome-wide association studies of complex diseases based upon dense marker maps are now technically feasible. However, the cost of such projects remains high.
Owen Michael J, Moskvina Valentina, Georgieva Lyudmila, Nikolov Ivan, Kirov George, O'Donovan Michael C   +5 more
doaj   +1 more source

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

Nature Communications, 2018
Association between variants in 11 different genes and breast cancer risk has been established and sequencing of these genes is recommended to provide personalized diagnosis, therapy, and surveillance for the high-risk patients and their relatives.
Yukihide Momozawa, Yusuke Iwasaki, Michael T. Parsons, Yoichiro Kamatani, Atsushi Takahashi, Chieko Tamura, Toyomasa Katagiri, Teruhiko Yoshida, Seigo Nakamura, Kokichi Sugano, Yoshio Miki, Makoto Hirata, Koichi Matsuda, Amanda B. Spurdle, Michiaki Kubo   +14 more
doaj   +1 more source