Results 1 to 10 of about 245,577 (122)
MENDELSEEK: An algorithm that predicts mendelian genes and elucidates what makes them special. [PDF]
PLoS Computational BiologyAlthough individual Mendelian diseases-those caused by a single gene-are rare, their collective disease burden is substantial. Identifying the causal gene for each condition is essential for accurate diagnosis and effective treatment.
Hongyi Zhou +2 more
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Frontiers in Genetics, 2022 Purpose: Observational research has indicated the presence of a causal relationship between sleep disturbances and low back pain (LBP). However, the link may have been biased by confounding factors.
Peng Shu +4 more
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Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study
Orphanet Journal of Rare Diseases, 2022 Introduction This study implemented MendelScan, a primary care rare disease case-finding tool, into a UK National Health Service population. Rare disease diagnosis is challenging due to disease complexity and low physician awareness.
Orlando Buendia +9 more
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Genetic and karyotype divergence between parents affect clonality and sterility in hybrids
eLife, 2023 Asexual reproduction can be triggered by interspecific hybridization, but its emergence is supposedly rare, relying on exceptional combinations of suitable genomes.
Anatolie Marta +11 more
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Unveiling the Mysteries of Non-Mendelian Heredity in Plant Breeding
Plants, 2023 Mendelian heredity is the cornerstone of plant breeding and has been used to develop new varieties of plants since the 19th century. However, there are several breeding cases, such as cytoplasmic inheritance, methylation, epigenetics, hybrid vigor, and ...
Mohsen Yoosefzadeh Najafabadi +2 more
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Monogenic Lupus: A Developing Paradigm of Disease
Frontiers in Immunology, 2018 Monogenic lupus is a form of systemic lupus erythematosus (SLE) that occurs in patients with a single gene defect. This rare variant of lupus generally presents with early onset severe disease, especially affecting the kidneys and central nervous system.
Jessie M. Alperin +3 more
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Causal analysis between gastro-oesophageal reflux disease and obstructive sleep apnoea
ERJ Open Research, 2023 Background Based on evidence from existing observational research, clarifying the causal relationship between gastro-oesophageal reflux disease (GORD) and obstructive sleep apnoea (OSA) is challenging.
Gui Chen +8 more
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Celer: an Efficient Program for Genotype Elimination [PDF]
Electronic Proceedings in Theoretical Computer Science, 2010 This paper presents an efficient program for checking Mendelian consistency in a pedigree. Since pedigrees may contain incomplete and/or erroneous information, geneticists need to pre-process them before performing linkage analysis.
Nicoletta De Francesco +2 more
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Frontiers in Cardiovascular Medicine, 2022 ObjectiveThis study aimed to estimate the causal effects of Coronavirus disease 2019 susceptibility and hospitalization on cardiovascular disease death using two-sample Mendelian randomization analysis.MethodsWe used statistics from a genome-wide ...
Jia-peng Miao, Xiao-yu Gu, Rui-zheng Shi
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Evolution of dominance in gene expression pattern associated with phenotypic robustness
BMC Ecology and Evolution, 2021 Background Mendelian inheritance is a fundamental law of genetics. When we consider two genomes in a diploid cell, a heterozygote’s phenotype is dominated by a particular homozygote according to the law of dominance.
Kenji Okubo, Kunihiko Kaneko
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