Results 21 to 30 of about 6,238,924 (364)
A general framework for estimating the relative pathogenicity of human genetic variants
Nature Genetics, 2014 Current methods for annotating and interpreting human genetic variation tend to exploit a single information type (for example, conservation) and/or are restricted in scope (for example, to missense changes).
Martin Kircher +5 more
semanticscholar +1 more source
A new mutation for Cantu's syndrome
Journal of Education, Health and Sport, 2022 Introduction: Cantu syndrome is one of the rare genetic syndromes. Formally, there are no diagnostic criteria for Cantu syndrome, but given the characteristic appearance and reproducible features in people with a mutation in the ABCC9 gene, there is a ...
Julia Bargieł +2 more
doaj +1 more source
The GTEx Consortium atlas of genetic regulatory effects across human tissues
Science, 2019 The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms to trait and disease associations.
F. Aguet +51 more
semanticscholar +1 more source
Eukaryotes arose after genetic recombination [PDF]
Archive of Oncology, 2006 Division of ancestral prokaryotic pragenome into two circular double-stranded DNA molecules by genetic recombination, is a base for future separate evolution of nuclear and mitochondrial gene compartment.
Stupar Milanko R.
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Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases
Frontiers in Molecular Neuroscience, 2022 Although SCN1A variants result in a wide range of phenotypes, genotype-phenotype associations are not well established. We aimed to explore the phenotypic characteristics of SCN1A associated seizure diseases and establish genotype-phenotype correlations.
Chunhong Chen +5 more
doaj +1 more source
Bioinform., 2012 Summary: GenAlEx: Genetic Analysis in Excel is a cross-platform package for population genetic analyses that runs within Microsoft Excel. GenAlEx offers analysis of diploid codominant, haploid and binary genetic loci and DNA sequences.
R. Peakall, P. Smouse
semanticscholar +1 more source
Genetic Variants of the MIF Gene and Susceptibility of Rectal Cancer
Pharmacogenomics and Personalized Medicine, 2021 Dongyu Chuo, Dapeng Lin, Mingdi Yin, Yuze Chen Colorectal Surgery, Cancer Hospital of China Medical University, Liaoning Cancer Hospital & Institute, Shenyang, Liaoning Province 110042, People’s Republic of ChinaCorrespondence: Yuze ...
Chuo D, Lin D, Yin M, Chen Y
doaj
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Nucleic Acids Research, 2010 High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally important variants.
Kai Wang, Mingyao Li, H. Hakonarson
semanticscholar +1 more source
Indian Journal of Endocrinology and Metabolism, 2017 Background: Worldwide, South Asians contribute to a high proportion of coronary artery disease (CAD) burden, mainly attributed to a high prevalence of diabetes.
Dhivakar Mani +7 more
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Biological Insights From 108 Schizophrenia-Associated Genetic Loci
Nature, 2014 Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies.
S. Ripke +299 more
semanticscholar +1 more source