Results 71 to 80 of about 15,343 (276)

Wolf outside, dog inside? The genomic make-up of the Czechoslovakian Wolfdog [PDF]

, 2018
Background Genomic methods can provide extraordinary tools to explore the genetic background of wild species and domestic breeds, optimize breeding practices, monitor and limit the spread of recessive diseases, and discourage illegal crossings.
Bolf\uedkov\ue1, Barbora \u10cern\ue1, Camatta, Alessio, Caniglia, Romolo, Carnier, Paolo, Dykyy, Ihor, Fabbri, Elena, Galaverni, Marco, Hulva, Pavel, Jind\u159ichov\ue1, Milena, Randi, Ettore, Stronen, Astrid Vik   +10 more
core   +2 more sources

Crucial parameters for precise copy number variation detection in formalin‐fixed paraffin‐embedded solid cancer samples

Molecular Oncology, EarlyView.
This study shows that copy number variations (CNVs) can be reliably detected in formalin‐fixed paraffin‐embedded (FFPE) solid cancer samples using ultra‐low‐pass whole‐genome sequencing, provided that key (pre)‐analytical parameters are optimized.
Hanne Goris, Vasiliki Siozopoulou, Léon C van Kempen, Anne Sieben, Ella Roelant, Stig Hellemans, Elyne Backx, Laure Sorber, Koen De Winne, Senada Koljenović, Karen Zwaenepoel   +10 more
wiley   +1 more source

Genome-Wide Analyses Reveal the Genetic Architecture and Candidate Genes of Indicine, Taurine, Synthetic Crossbreds, and Locally Adapted Cattle in Brazil

Frontiers in Genetics, 2021
Cattle population history, breeding systems, and geographic subdivision may be reflected in runs of homozygosity (ROH), effective population size (Ne), and linkage disequilibrium (LD) patterns.
Lucas Lima Verardo, Fabyano Fonseca e Silva, Marco Antonio Machado, João Cláudio do Carmo Panetto, Daniele Ribeiro de Lima Reis Faza, Pamela Itajara Otto, Luciana Correia de Almeida Regitano, Luiz Otávio Campos da Silva, Andréa Alves do Egito, Maria do Socorro Maués Albuquerque, Ricardo Zanella, Marcos Vinicius Gualberto Barbosa da Silva   +11 more
doaj   +1 more source

Conservation genomic analysis of domestic and wild pig populations from the Iberian Peninsula [PDF]

, 2013
Background Inbreeding is among the major concerns in management of local livestock populations. The effective population size of these populations tends to be small, which enhances the risk of fitness reduction and extinction.
Bosse, Mirte, Crooijmans, Richard P. M. A., Groenen, Martien A. M., Herrero-Medrano, Juan M., Megens, Hendrik-Jan, Pérez-Enciso, Miguel, Ramis, Guillermo   +6 more
core   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Genomic dissection of inbreeding depression: a gate to new opportunities

Revista Brasileira de Zootecnia
Inbreeding depression, reduction in performance of quantitative traits, including reproduction and survival, caused by inbreeding, is a well-known phenomenon observed in almost all experimental, domesticated, and natural populations.
Ino Curik, Maja Ferenčaković, Johann Sölkner   +2 more
doaj   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Novel Graphical Analyses of Runs of Homozygosity among Species and Livestock Breeds [PDF]

, 2016
peer-reviewedRuns of homozygosity (ROH), uninterrupted stretches of homozygous genotypes resulting from parents transmitting identical haplotypes to their offspring, have emerged as informative genome-wide estimates of autozygosity (inbreeding).
Iacolina, Laura, Kaminski, Stanislaw, Kjaersgaard, Anders, Munoz, Joaquin, Norgaard, Louise S., Pertoldi, Cino, Purfield, Deirdre C, Ruiz-Gonzalez, Aritz, Stronen, Astrid V., Tokarska, Małgorzata   +9 more
core   +2 more sources

Considerate Approaches to Achieving Sufficiency for ABC model selection

, 2011
For nearly any challenging scientific problem evaluation of the likelihood is problematic if not impossible. Approximate Bayesian computation (ABC) allows us to employ the whole Bayesian formalism to problems where we can use simulations from a model ...
Chris Barnes, Michael Stumpf, Michael Stumpf, Sarah Filippi, Tom Thorne   +4 more
core   +1 more source