Results 71 to 80 of about 23,484 (271)

Genome-wide analysis of runs of homozygosity in Italian Mediterranean buffalo

Journal of Dairy Science, 2022
Las corridas de homocigosis (Roh) son una poderosa herramienta para explorar patrones de endogamia genómica en poblaciones animales y detectar firmas de selección. El presente estudio utilizó el análisis de Roh para evaluar los patrones de homocigosis en todo el genoma, los niveles de endogamia y la distribución de las islas Roh utilizando los ...
Zichen Wang, Xiaoya Ma, Faiz‐ul Hassan, Gao Teng-yun, Tingxian Deng   +4 more
openaire   +3 more sources

An inbreeding perspective on the effectiveness of wildlife population defragmentation measures – a case study on wild boar (Sus scrofa) of Veluwe, The Netherlands

Frontiers in Ecology and Evolution
Pervasive inbreeding is a major genetic threat of population fragmentation and can undermine the efficacy of population connectivity measures. Nevertheless, few studies have evaluated whether wildlife crossings can alleviate the frequency and length of ...
Joost F. de Jong, Menno J. de Jong, Hendrik-Jan Megens, Pim van Hooft, Richard P. M. A. Crooijmans, G. Arjen de Groot, Herbert H. T. Prins   +6 more
doaj   +1 more source

Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome [PDF]

, 2016
Runs of homozygosity for Lundehund specific regions in 500-SNP windows. The chromosomal position of ROH regions, number of SNPs in these regions (n), size in base pairs (size_bp), canine genes (gene) and human orthologues (human gene) are shown. (XLSX 88
Julia Metzger, Ottmar Distl, Sophia Pfahler   +2 more
core   +8 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

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

Runs of homozygosity and inferences in wild populations

Molecular Ecology
ABSTRACTLong homozygous chromosome segments are known as runs of homozygosity (ROH); these reflect patterns of identity by descent and can be used to measure individual inbreeding, map recessive traits, and reconstruct demographic histories. Here, we review some key considerations with ROH detection and the inferences pertaining to inbreeding and ...
Aaron B. A. Shafer, Marty Kardos
openaire   +2 more sources

Expanding the clinical phenotype of IARS2-related mitochondrial disease

BMC Medical Genetics, 2018
Background IARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their cognate amino acid for translation.
Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani   +22 more
doaj   +1 more source

Venetian local corn (Zea mays L.) germplasm: Disclosing the genetic anatomy of old landraces suited for typical cornmeal mush production. [PDF]

, 2017
Due to growing concern for the genetic erosion of local varieties, four of the main corn landraces historically grown in Veneto (Italy) \u2014 Sponcio, Marano, Biancoperla and Rosso Piave \u2014 were characterized in this work.
Barcaccia, Gianni, Galla, Giulio, Mart\ued\uadnez-Bello, Liliam, Palumbo, Fabio   +3 more
core   +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

Runs of homozygosity in Sable Island feral horses reveal the genomic consequences of inbreeding and divergence from domestic breeds

BMC Genomics, 2022
Background Understanding inbreeding and its impact on fitness and evolutionary potential is fundamental to species conservation and agriculture. Long stretches of homozygous genotypes, known as runs of homozygosity (ROH), result from inbreeding and their
Julie Colpitts, Philip Dunstan McLoughlin, Jocelyn Poissant   +2 more
doaj   +1 more source