Results 41 to 50 of about 4,000 (206)

The Signatures of Autozygosity among Patients with Colorectal Cancer [PDF]

Cancer Research, 2008
Abstract Previous studies have shown that among populations with a high rate of consanguinity, there is a significant increase in the prevalence of cancer. Single nucleotide polymorphism (SNP) array data (Affymetrix, 50K XbaI) analysis revealed long regions of homozygosity in genomic DNAs taken from tumor and matched normal tissues of
Manny D, Bacolod, Gunter S, Schemmann, Shuang, Wang, Richard, Shattock, Sarah F, Giardina, Zhaoshi, Zeng, Jinru, Shia, Robert F, Stengel, Norman, Gerry, Josephine, Hoh, Tomas, Kirchhoff, Bert, Gold, Michael F, Christman, Kenneth, Offit, William L, Gerald, Daniel A, Notterman, Jurg, Ott, Philip B, Paty, Francis, Barany   +18 more
openaire   +2 more sources

Assessment and Distribution of Runs of Homozygosity in Horse Breeds Representing Different Utility Types

Animals, 2022
The present study reports runs of homozygosity (ROH) distribution in the genomes of six horse breeds (571 horses in total) representing three horse types (primitive, light, and draft horses) based on the 65k Equine BeadChip assay.
Tomasz Szmatoła, Artur Gurgul, Igor Jasielczuk, Ewa Oclon, Katarzyna Ropka-Molik, Monika Stefaniuk-Szmukier, Grazyna Polak, Iwona Tomczyk-Wrona, Monika Bugno-Poniewierska   +8 more
doaj   +1 more source

A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]

, 2013
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Alessandra Maresca, Andrea Angius, Andrea Angius, Antonia Parmeggiani, Flavia Palombo, Francesco Cucca, Laura Crisponi, Marco Seri, Maria Lucia Valentino, Rocco Liguori, Tommaso Pippucci, Valerio Carelli   +11 more
core   +15 more sources

Genetic Diversity and Autozygosity Estimates in Wild European Boars and Domesticated Pigs

Экологическая генетика, 2023
Pigs are one of the most widely distributed domestic animals. The study of their genetic diversity and selection loci is of great interest both in the field of genetics and animal breeding, and in the aspect of conservation and development of breeding ...
S. Y. Bakoev, T. Romanets, A. V. Korobeynikova, A. I. Mishina, M. Kolosova, E. Romanets, A. Kolosov, L. Getmantseva   +7 more
semanticscholar   +1 more source

Association Between Autozygosity and Major Depression: Stratification Due to Religious Assortment [PDF]

Behavior Genetics, 2013
The effects of inbreeding on the health of offspring can be studied by measuring genome-wide autozygosity as the proportion of the genome in runs of homozygosity (Froh) and relate Froh to outcomes such as psychiatric phenotypes. To successfully conduct these studies, the main patterns of variation for genome-wide autozygosity between and within ...
Abdellaoui A, Hottenga JJ, Xiao X, Scheet P, Ehli EA, Davies GE, Hudziak JJ, Smit DJ, Bartels M, Willemsen G, Brooks A, Sullivan PF, Smit JH, de Geus EJ, Penninx BW, Boomsma DI   +15 more
openaire   +3 more sources

Genetic diversity and population history of eight Italian beef cattle breeds using measures of autozygosity

bioRxiv, 2021
In the present study, GeneSeek GGP-LDv4 33k single nucleotide polymorphism chip was used to detect runs of homozygosity (ROH) in eight Italian beef cattle breeds; six breeds with distribution limited to Tuscany (Calvana, Mucca Pisana, Pontremolese) or ...
M. Fabbri, C. Dadousis, F. Tiezzi, C. Maltecca, E. Lozada-Soto, S. Biffani, R. Bozzi   +6 more
semanticscholar   +1 more source

Population Genomics of Incipient Allochronic Divergence in the Pine Processionary Moth. [PDF]

Mol Ecol
ABSTRACT Allochronic divergence is a key evolutionary mechanism that can frequently lead to incipient speciation. Although theoretical models suggest that such divergence is notably facilitated by small population size and genetic polymorphisms influencing reproductive timing, though constrained by genetic load, empirical validation remains limited. We
Muller T, Gautier M, Lombaert É, Leblois R, Sauné L, Branco M, Kerdelhué C, Perrier C.   +7 more
europepmc   +2 more sources

Estimating the human mutation rate using autozygosity in a founder population [PDF]

Nature Genetics, 2012
Knowledge of the rate and pattern of new mutation is critical to the understanding of human disease and evolution. We used extensive autozygosity in a genealogically well-defined population of Hutterites to estimate the human sequence mutation rate over multiple generations.
Campbell, Catarina D, Chong, Jessica X, Malig, Maika, Ko, Arthur, Dumont, Beth L, Han, Lide, Vives, Laura, O'Roak, Brian J, Sudmant, Peter H, Shendure, Jay, Abney, Mark, Ober, Carole, Eichler, Evan E   +12 more
openaire   +4 more sources

Pedigree and genome-based patterns of homozygosity in the South African Ayrshire, Holstein, and Jersey breeds

Frontiers in Genetics, 2023
The erosion of genetic diversity limits long-term genetic gain and impedes the sustainability of livestock production. In the South African (SA) dairy industry, the major commercial dairy breeds have been applying estimated breeding values (EBVs) and/or ...
Carina Visser, Simon Frederick Lashmar, Jason Reding, Donagh P. Berry, Donagh P. Berry, Esté van Marle-Köster   +5 more
doaj   +1 more source

A within- and across-country assessment of the genomic diversity and autozygosity of South African and eSwatini Nguni cattle

Tropical Animal Health and Production, 2022
In southern Africa, the Nguni cattle breed is classified as an indigenous and transboundary animal genetic resource (AnGR) that manifests unique adaptation abilities across distinct agroecological zones. The genetic integrity of various ecotypes is under
Lashmar, Visser, Okpeku, Muchadeyi, Mapholi, Marle ‐ Köster   +5 more
semanticscholar   +1 more source