نتایج جستجو برای: autozygosity

تعداد نتایج: 143  

Journal: :Genetic epidemiology 1997
S W Guo

Homozygosity mapping is a very powerful method for mapping rare recessive diseases in humans. In many applications, it is often desirable to compute prior (or unconditional) multilocus probability of autozygosity for inbred pedigrees. This paper proposes a simple yet powerful method for computing the prior multilocus autozygosity probability for complex inbred pedigrees. The method has an added...

2013
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

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. This migration of elite alleles has caused certain regions of the genome to have runs of homozygosity (ROH) occasionally spanning millions of continuous base pairs at a specific locus. In this study, gen...

Journal: :PLoS Genetics 2009
Michael A. Nalls Javier Simon-Sanchez J. Raphael Gibbs Coro Paisan-Ruiz Jose Tomas Bras Toshiko Tanaka Mar Matarin Sonja Scholz Charles Weitz Tamara B. Harris Luigi Ferrucci John Hardy Andrew B. Singleton

This research investigates the influence of demographic factors on human genetic sub-structure. In our discovery cohort, we show significant demographic trends for decreasing autozygosity associated with population variation in chronological age. Autozygosity, the genomic signature of consanguinity, is identifiable on a genome-wide level as extended tracts of homozygosity. We identified an aver...

Journal: :Behavior genetics 2013
Abdel Abdellaoui Jouke-Jan Hottenga Xiangjun Xiao Paul Scheet Erik A Ehli Gareth E Davies James J Hudziak Dirk J A Smit Meike Bartels Gonneke Willemsen Andrew Brooks Patrick F Sullivan Johannes H Smit Eco J de Geus Brenda W J H Penninx Dorret I Boomsma

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 (F roh) and relate F roh to outcomes such as psychiatric phenotypes. To successfully conduct these studies, the main patterns of variation for genome-wide autozygosity between and within populations should be well understood and accoun...

Journal: :American journal of human genetics 2008
Ruth McQuillan Anne-Louise Leutenegger Rehab Abdel-Rahman Christopher S Franklin Marijana Pericic Lovorka Barac-Lauc Nina Smolej-Narancic Branka Janicijevic Ozren Polasek Albert Tenesa Andrew K Macleod Susan M Farrington Pavao Rudan Caroline Hayward Veronique Vitart Igor Rudan Sarah H Wild Malcolm G Dunlop Alan F Wright Harry Campbell James F Wilson

Estimating individual genome-wide autozygosity is important both in the identification of recessive disease variants via homozygosity mapping and in the investigation of the effects of genome-wide homozygosity on traits of biomedical importance. Approaches have tended to involve either single-point estimates or rather complex multipoint methods of inferring individual autozygosity, all on the b...

2017
Edmund Gilbert Shai Carmi Sean Ennis James F. Wilson Gianpiero L. Cavalleri

The Irish Travellers are a population with a history of nomadism; consanguineous unions are common and they are socially isolated from the surrounding, 'settled' Irish people. Low-resolution genetic analysis suggests a common Irish origin between the settled and the Traveller populations. What is not known, however, is the extent of population structure within the Irish Travellers, the time of ...

2015
Eui-Soo Kim Tad S. Sonstegard Curtis P. Van Tassell George Wiggans Max F. Rothschild Claire Wade

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 occur from mating between selected and genomically related individuals may be able to reveal the regions affecting fitness. To examine the inf...

2012
Matthew C. Keller Matthew A. Simonson Stephan Ripke Ben M. Neale Pablo V. Gejman Daniel P. Howrigan Sang Hong Lee Todd Lencz Douglas F. Levinson Patrick F. Sullivan The Schizophrenia Psychiatric Genome-Wide Association Study Consortium

Autozygosity occurs when two chromosomal segments that are identical from a common ancestor are inherited from each parent. This occurs at high rates in the offspring of mates who are closely related (inbreeding), but also occurs at lower levels among the offspring of distantly related mates. Here, we use runs of homozygosity in genome-wide SNP data to estimate the proportion of the autosome th...

2016
Vagheesh Narasimhan Petr Danecek Aylwyn Scally Yali Xue Chris Tyler-Smith Richard Durbin

UNLABELLED Runs of homozygosity (RoHs) are genomic stretches of a diploid genome that show identical alleles on both chromosomes. Longer RoHs are unlikely to have arisen by chance but are likely to denote autozygosity, whereby both copies of the genome descend from the same recent ancestor. Early tools to detect RoH used genotype array data, but substantially more information is available from ...

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