Results 21 to 30 of about 782,061 (323)

Forensic SNP genotyping using nanopore MinION sequencing [PDF]

, 2017
One of the latest developments in next generation sequencing is the Oxford Nanopore Technologies' (ONT) MinION nanopore sequencer. We studied the applicability of this system to perform forensic genotyping of the forensic female DNA standard 9947 A using
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Gansemans, Yannick, Van Nieuwerburgh, Filip   +4 more
core   +2 more sources

Benchmarking database systems for Genomic Selection implementation [PDF]

, 2019
Motivation: With high-throughput genotyping systems now available, it has become feasible to fully integrate genotyping information into breeding programs.
Guignon, Valentin, Jones, Elizabeth, Larmande, Pierre, Matthews, Dave, Nti-Addae, Yaw, Petel, Adrien, Renner, Jon, Robbins, Kelly, Sempere, Guilhem, Syed, Raza, Ulat, Victor Jun   +10 more
core   +2 more sources

Multicenter Outbreak of Infections by Saprochaete clavata, an Unrecognized Opportunistic Fungal Pathogen

mBio, 2014
Rapidly fatal cases of invasive fungal infections due to a fungus later identified as Saprochaete clavata were reported in France in May 2012. The objectives of this study were to determine the clonal relatedness of the isolates and to investigate ...
Sophie Vaux, Alexis Criscuolo, Marie Desnos-Ollivier, Laure Diancourt, Chloé Tarnaud, Matthias Vandenbogaert, Sylvain Brisse, Bruno Coignard, Françoise Dromer   +8 more
doaj   +1 more source

GBS-SNP-CROP: a reference-optional pipeline for SNP discovery and plant germplasm characterization using variable length, paired-end genotyping-by-sequencing data [PDF]

, 2016
Background: With its simple library preparation and robust approach to genome reduction, genotyping-by-sequencing (GBS) is a flexible and cost-effective strategy for SNP discovery and genotyping, provided an appropriate reference genome is available. For
Bartaula, Radhika, Hale, Iago L., Tavares De Oliveira Melo, Arthur   +2 more
core   +2 more sources

Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1

Stem Cell Research, 2018
The human induced pluripotent stem cell (hiPSC) line, derived from dermal fibroblasts from Leber congenital amaurosis patient with homozygous mutation c.265 T > C, p.Cys89Arg in aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) was generated ...
Dunja Lukovic, Ana Artero Castro, Marian León, Verónica del Buey Furió, Marta Cortón, Carmen Ayuso, Slaven Erceg   +6 more
doaj   +1 more source

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

2b-RAD genotyping for population genomic studies of Chagas disease vectors: Rhodnius ecuadoriensis in Ecuador [PDF]

, 2017
Background: Rhodnius ecuadoriensis is the main triatomine vector of Chagas disease, American trypanosomiasis, in Southern Ecuador and Northern Peru.
Andersson, Björn, Costales, Jaime A., De Noia, Michele, Grijalva, Mario J., Hernandez Castro, Luis Enrique, Hernandez-Castro, Luis E., Llewellyn, Martin S., Ocaña-Mayorga, Sofía, Paterno, Marta, Villacís, Anita G., Yumiseva, Cesar A.   +10 more
core   +4 more sources

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