Results 121 to 130 of about 1,564 (152)

Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy. [PDF]

Mov Disord
Cook SR, Schwarz C, Guevar J, Assenmacher CA, Sheehy M, Fanzone N, Church ME, Murgiano L, Casal ML, Jagannathan V, Gutierrez-Quintana R, Lowrie M, Steffen F, Leeb T, Ekenstedt KJ.   +14 more
europepmc   +1 more source

Comparative Analysis of the Genetic Composition of Minorities in the Carpathian Basin Through Genome-Wide Autosomal Data. [PDF]

Genes (Basel)
Szabó A, Sümegi K, Bánfai Z, Hadzsiev K, Gallyas F, Miseta A, Kásler M, Melegh B.   +7 more
europepmc   +1 more source

A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies. [PDF]

JBMR Plus
Al-Mutairi DA, Jarragh AA, Alsabah BH, Wein MN, Mohammed W, Alkharafi L.   +5 more
europepmc   +1 more source

Parental Consanguinity and Family History in Relation to Psoriasis and the Role of Sex: A Case-Control Study.

Hum Hered
AlKhas AN, Ziyab AH.
europepmc   +1 more source

Proteomic and clinical impact of human knockouts in British South Asians

Carrasco Zanini J, Pietzner M, Koprulu M, Zoodsma M, Williamson A, Hunt KA, Manolias A, Walter K, Genes & Health Industry Consortium, Genes & Health Research Team, Martin HC, Finer S, van Heel DA, Langenberg C.   +13 more
europepmc   +1 more source

Estimates of Autozygosity Through Runs of Homozygosity in Farmed Coho Salmon [PDF]

Genes, 2020
Abstract The characterization of runs of homozygosity (ROH), using high-density single nucleotide polymorphisms (SNPs) allows inferences to be made about the past demographic history of animal populations and the genomic ROH has become a common approach to characterize the inbreeding.
JOSÉ Manuel Yanez, Grazyella Yoshida, Rodrigo Ignacio Marín-Nahuelpi   +2 more
exaly   +4 more sources

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 ...
Ejc De Geus, , Dirk J A Smit
exaly   +3 more sources

Global Autozygosity Is Associated with Cancer Risk, Mutational Signature and Prognosis [PDF]

Cancers, 2020
Global autozygosity quantifies the genome-wide levels of homozygous and heterozygous variants. It is the signature of non-random reproduction, though it can also be driven by other factors, and has been used to assess risk in various diseases. However, the association between global autozygosity and cancer risk has not been studied.
Yan Guo, Scott Ness, Fei Guo
exaly   +3 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.
Lide Han, Jay Shendure, Arthur Ko
exaly   +5 more sources

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Autozygosity Mapping with Exome Sequence Data

Human Mutation, 2012
Autozygosity mapping is a powerful method for the identification of recessively inherited disease genes using small inbred families. Typically, microarray SNP genotype data are first used to identify autozygous regions as extended runs of homozygous genotypes.
Carr, Ian M., Bhaskar, Sanjeev, O' Sullivan, James, Aldahmesh, Mohammed A., Shamseldin, Hanan E., Markham, Alexander F., Bonthron, David T., Black, Graeme, Alkuraya, Fowzan S., O'Sullivan, James; id_orcid 0000-0003-1141-1430   +9 more
openaire   +2 more sources