Results 31 to 40 of about 2,131 (168)

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

Human population structure, genome autozygosity and human health [PDF]

Genome Medicine, 2009
A major transition in human population structure is currently under way, moving from a historical metapopulation, comprising small and mainly rural endogamous communities, to large and increasingly panmictic urban populations. This process is predicted to increase outbreeding, and preliminary data from genomic surveys have helped to quantify the ...
Campbell, H., Rudan, I., Bittles, A.H., Wright, A.F.   +3 more
openaire   +5 more sources

Autozygosity Mapping by Genome-wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous HR Mutation in a Consanguineous Family with Universal Hereditary Hair Loss

International Journal of Dermatology and Venerology, 2021
. Objective:. Isolated hereditary hypotrichosis is caused by mutations in as many as 11 different genes. The conventional mutation detection strategy consists of sequencing of individual candidate genes separately, a time consuming and costly approach ...
Sirous Zeinali, Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Soheila Sotoudeh, Hamideh Bagherian, Jouni Uitto   +6 more
doaj   +1 more source

EFNB3 Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder. [PDF]

Mov Disord
ABSTRACT Background Congenital mirror movement disorders (CMMs) are clinically and genetically heterogeneous in human patients. CMMs have not been documented to occur spontaneously in animals. Objective The objective of this work was to document the first case of CMMs spontaneously occurring in Weimaraner dogs and to identify the underlying genetic ...
Schwarz C, Bartenschlager F, Kershaw O, Braun J, Guevar J, Jagannathan V, Epplen JT, Reineking W, Baumgärtner W, Bhatia KP, Gruber AD, Leeb T.   +11 more
europepmc   +2 more sources

The Relationship between Runs of Homozygosity and Inbreeding in Jersey Cattle under Selection. [PDF]

PLoS ONE, 2015
Inbreeding is often an inevitable outcome of strong directional artificial selection but on average it reduces population fitness with increased frequency of recessive deleterious alleles. Runs of homozygosity (ROH) representing genomic autozygosity that
Eui-Soo Kim, Tad S Sonstegard, Curtis P Van Tassell, George Wiggans, Max F Rothschild   +4 more
doaj   +1 more source

Genome‐wide autozygosity mapping in human populations [PDF]

Genetic Epidemiology, 2008
AbstractIndividuals are frequently observed to have long segments of uninterrupted sequences of homozygous markers. One of the major mechanisms that gives rise to such long homozygous segments is consanguineous marriages, where parents pass shared chromosomal segments to their child. Such chromosomal segments are also known as autozygous segments.
Shuang, Wang, Chad, Haynes, Francis, Barany, Jurg, Ott   +3 more
openaire   +2 more sources

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update

Frontiers in Genetics, 2020
There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases.
Sateesh Maddirevula, Hanan E. Shamseldin, Amy Sirr, Lama AlAbdi, Lama AlAbdi, Russell S. Lo, Nour Ewida, Mashael Al-Qahtani, Mais Hashem, Firdous Abdulwahab, Omar Aboyousef, Namik Kaya, Dorota Monies, May H. Salem, Naffaa Al Harbi, Hesham M. Aldhalaan, Hamad Alzaidan, Hamad Alzaidan, Hadeel M. Almanea, Abrar K. Alsalamah, Fuad Al Mutairi, Samira Ismail, Ghada M. H. Abdel-Salam, Amal Alhashem, Amal Alhashem, Ali Asery, Eissa Faqeih, Amal AlQassmi, Waleed Al-Hamoudi, Talal Algoufi, Mohammad Shagrani, Mohammad Shagrani, Aimée M. Dudley, Fowzan S. Alkuraya, Fowzan S. Alkuraya   +34 more
doaj   +1 more source

Genetic Background and Inbreeding Depression in Romosinuano Cattle Breed in Mexico

Animals, 2021
The ultimate goal of genetic selection is to improve genetic progress by increasing favorable alleles in the population. However, with selection, homozygosity, and potentially harmful recessive alleles can accumulate, deteriorating genetic variability ...
Jorge Hidalgo, Alberto Cesarani, Andre Garcia, Pattarapol Sumreddee, Neon Larios, Enrico Mancin, José Guadalupe García, Rafael Núñez, Rodolfo Ramírez   +8 more
doaj   +1 more source

Are autozygosity estimates from imputed genotypes reliable?

Proceedings of 12th World Congress on Genetics Applied to Livestock Production (WCGALP), 2022
Estimates of the inbreeding coefficient based on runs of homozygosity (FROH) are widely used in population genetics and livestock studies. The accuracy of FROH estimates is determined in part by the density of the genotyping chip. Compared with high density (HD) chips, low density (LD) chips tend to overestimate FROH in shorter homozygous segments.
Ferenčaković, Maja, Čurik, Ino
  +5 more sources

Effect of artificial selection on runs of homozygosity in u.s. Holstein cattle. [PDF]

PLoS ONE, 2013
The intensive selection programs for milk made possible by mass artificial insemination increased the similarity among the genomes of North American (NA) Holsteins tremendously since the 1960s.
Eui-Soo Kim, John B Cole, Heather Huson, George R Wiggans, Curtis P Van Tassell, Brian A Crooker, George Liu, Yang Da, Tad S Sonstegard   +8 more
doaj   +1 more source