Results 141 to 150 of about 58,106,402 (334)

Reproducibility of Genotyping-by-Sequencing

open access: yes, 2015
Genotyping-by-Sequencing is a high-throughput genotyping platform that promises to tap into complex genomes, especially genomes of obligate outcrossing species.
Marty Faville (5072459)   +2 more
core  

Bioinformatics' approaches to detect genetic variation in whole genome sequencing data [PDF]

open access: yes, 2010
Current genetic marker repositories are not sufficient or even are completely lacking for most farm animals. However, genetic markers are essential for the development of a research tool facilitating discovery of genetic factors that contribute to ...
Kerstens, H.H.D.
core  

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw   +5 more
wiley   +1 more source

Improving genomic predictions by correction of genotypes from genotyping by sequencing in livestock populations

open access: yesJournal of Animal Science and Biotechnology, 2019
Background Genotyping by sequencing (GBS) is a robust method to genotype markers. Many factors can influence the genotyping quality. One is that heterozygous genotypes could be wrongly genotyped as homozygotes, dependent on the genotyping depths. In this
Xiao Wang   +5 more
doaj   +1 more source

Evaluating Imputation Algorithms for Low-Depth Genotyping-By-Sequencing (GBS) Data

open access: yesPLoS ONE, 2016
Well-powered genomic studies require genome-wide marker coverage across many individuals. For non-model species with few genomic resources, high-throughput sequencing (HTS) methods, such as Genotyping-By-Sequencing (GBS), offer an inexpensive alternative
Ariel W. Chan, M. Hamblin, J. Jannink
semanticscholar   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers   +19 more
wiley   +1 more source

Genetic resources of African mahogany in Brazil: genomic diversity and structure of forest plantations

open access: yesBMC Plant Biology
Background African mahogany species (Khaya sp.) have been introduced to Brazil gaining increasing economic interest over the last years, as they produce high quality wood for industrial applications.
Júlio Cézar Tannure Faria   +12 more
doaj   +1 more source

SNP discovery and genetic mapping using genotyping by sequencing of whole genome genomic DNA from a pea RIL population

open access: yesBMC Genomics, 2016
Progress in genetics and breeding in pea still suffers from the limited availability of molecular resources. SNP markers that can be identified through affordable sequencing processes, without the need for prior genome reduction or a reference genome to ...
G. Boutet   +9 more
semanticscholar   +1 more source

Parentage identification in NZ farmed deer using genotyping-by-sequencing

open access: yes, 2016
New Zealand deer farmers have used genetic markers to help them assign parentage for over 20 years. Knowing parentage is essential for breeders wanting to make rapid genetic gain in their livestock, and to avoid mating between close relatives.
Ken Dodds (3501542)   +6 more
core  

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs   +7 more
wiley   +1 more source

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