shows the phenotypes and gene frequency distri
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
... Human Gene Mutation Database ...any gene) deemed pathogenic according to the criteria described ...the gene list would not be extracted from the original VCF files because their SO consequence would ...
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Incorporating Gene Annotation into Genomic Prediction of Complex Phenotypes
... for gene locations when defining haplo- blocks can improve the predictive ability, using intralocus additive or categorical ...EjGA shows the highest predictive ability on ...
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Human commercial models’ eye colour shows negative frequency dependent selection
... It is known that eye colours varies broadly depending on the concentration of melanin pigment deposited in the iris as it is demonstrated with higher concentration in dark eyes or not present in blue eyes. This gradient ...
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The influence of disease categories on gene candidate predictions from model organism phenotypes
... 1 shows that Exomiser ’ s ability to identify the disease causing genes using the PHIVE algorithm varies for the different disease cate- ...also shows the performance of Exomiser if only the phenotype ...
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Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism
... ASD phenotypes. The DYRK1A gene is well conserved in vertebrates, in- cluding fish, rodents, and ...like phenotypes, yet the fish were viable without embry- onic ...
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Identification of multiple gene-gene interactions for ordinal phenotypes
... In order to demonstrate the proposed OMDR, we applied it to a body-mass index (BMI) category phenotype from the National Eye Institute Age-Related Eye Disease Study (AREDS). While the AREDS was originally designed to ...
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Association of the C825T polymorphism in the GNB3 gene with obesity and metabolic phenotypes in a Taiwanese population
... etiology of obesity-related metabolic traits in a Taiwanese population. Our analyses demonstrated that the CC genotype of GNB3 rs5443 predicts higher obesity-related metabolic traits such as triglyceride and total ...
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Manganese homeostasis: from rare single gene disorders to complex phenotypes and diseases
... #616721]) (6). In addition to these rare single-gene disorders, which have been highly informative regarding key roles of Mn transporters, Mn homeostasis has been implicated in complex diseases and traits through ...
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Novel mutatıons and diverse clinical phenotypes in recombınase-activating gene 1 deficiency
... High frequency of BCG infection in our study also needs to be discussed. Yeganeh et al reported that com- plicated Bacillus Calmette-Guérin (BCG) vaccination was documented in 18 of 40 SCID cases (45%) following ...
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Gene Clustering Based on RNAi Phenotypes of Ovary-Enriched Genes in C. elegans
... postembryonic phenotypes after control ...postembryonic phenotypes that others are predicted to be involved in transcriptional appeared among the progeny of two or more injected worms were regulation ...a ...
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Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene
... population frequency of variants was determined by the Genome Aggregation Database (gnomAD), which provides sequencing data from more than 123,136 exomes and 15,496 genomes from unrelated individuals of various ...
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Appearance frequency modulated gene set enrichment testing
... appearance frequency of genes in KEGG PATHWAY We begin with an analysis of the KEGG PATHWAY database to confirm our assumptions regarding the vary- ing appearance frequency of genes and to explore the ...
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Detecting and Measuring Selection from Gene Frequency Data
... posterior means of k ij for neutral markers are therefore closer to their prior distribution. Yet, the distributions are still wider than expected from the prior distribution, since the mean over 4000 independent samples ...
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Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour
... The phenotypes and MLPA results are summar- ized in Table ...known phenotypes) displayed atypi- cal MD or OHS, whereas the patients with duplication of a region with more than two exons all displayed clas- ...
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Appearance frequency modulated gene set enrichment testing
... appearance frequency of genes in KEGG PATHWAY We begin with an analysis of the KEGG PATHWAY database to confirm our assumptions regarding the vary- ing appearance frequency of genes and to explore the ...
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Frequency of Juvenile Myoclonic Epilepsy Clinical Phenotypes in Siberia
... Several phenotypes can be observed in one family, which suggests that there is a link between JME and other age-re- lated idiopathic generalised epilepsies, such as childhood absence epilepsy, epilepsy with ...
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The SLC6A14 gene shows evidence of association with obesity
... to hypothesize that allelic variants of the same gene may predispose to both traits. Acknowledgments We wish to warmly thank the patients for participating in this study. Teppo Varilo is greatly appreciated for ...
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The Psychosis Susceptibility gene ZNF804A: associations, functions and phenotypes
... 3. Kirov G, Zaharieva I, Georgieva L, Moskvina V, Nikolov I, Cichon S, Hillmer A, Toncheva D, Owen MJ, O'Donovan MC. A genome-wide association study in 574 schizophrenia trios using DNA pooling. Mol Psychiatry. 2009 ...
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The psychosis susceptibility gene ZNF804A: associations, functions, and phenotypes
... ‘‘better’’ cognitive performance than nonrisk allele car- riers in patients but not healthy controls. Of note, the cognitive functions involved—working memory and episodic memory—implicate precisely those cortical ...
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Linking gene expression to phenotypes via pathway information
... Keywords: Phenotypes, Pathways, Gene expression, Ontologies Introduction A fundamental aspect of disease research involves the understanding of biological processes that underpin observed ...measured ...
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