Results 131 to 140 of about 2,455 (150)
A Homozygous Deep Intronic SNX14 Variant Activates Pseudo-Exon Inclusion in a Patient with SCAR20. [PDF]
Genes (Basel)Misceo D +6 more
europepmc +1 more source
Influence of autozygosity on common disease risk across the phenotypic spectrum [PDF]
Cell, 2023 Autozygosity is associated with rare Mendelian disorders and clinically relevant quantitative traits. We investigated associations between the fraction of the genome in runs of homozygosity (FROH) and common diseases in Genes & Health (n = 23,978 ...
Chris J Griffiths +2 more
exaly +4 more sources
Global Autozygosity Is Associated with Cancer Risk, Mutational Signature and Prognosis
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.
Yan Guo, Scott Ness, Fei Guo
exaly +2 more sources
Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts [PDF]
American Journal of Human Genetics, 2023 Previous studies have hypothesized that autozygosity is decreasing over generational time. However, these studies were limited to relatively small samples (n \u3c 11,000) lacking in diversity, which may limit the generalizability of their findings.
Frank R Wendt +2 more
exaly +2 more sources
Computation of multilocus prior probability of autozygosity for complex inbred pedigrees [PDF]
Genetic Epidemiology, 1997 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
Sun-Wei Guo, S W Guo
exaly +2 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 (
Eco de Geus, Dirk J A Smit
exaly +2 more sources
Autozygosity Mapping with Exome Sequence Data
Human Mutation, 2013 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 ...
David T. Bonthron +2 more
exaly +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 ...
Lide Han, Jay Shendure, Arthur Ko
exaly +2 more sources
Methods in Ecology and Evolution, 2019 these are two files used to test the RZooRoH package in the manuscript: RZooRoH: an R package to characterize genomic autozygosity and identify homozygous-by-descent segments A.R. Bertrand, N.K. Kadri, L. Flori, M. Gautier and T.
Mathieu Gautier +2 more
exaly +2 more sources
Neurogenetics, 2011 Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases.
Shahid M Baig +2 more
exaly +2 more sources