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Incomplete penetrance and variable expressivity: from clinical studies to population cohorts
R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
CFTR modulators: shedding light on precision medicine for cystic fibrosis
M Lopes-Pacheco - Frontiers in pharmacology, 2016 - frontiersin.org
Cystic fibrosis (CF) is the most common life-threatening monogenic disease afflicting
Caucasian people. It affects the respiratory, gastrointestinal, glandular and reproductive …
Caucasian people. It affects the respiratory, gastrointestinal, glandular and reproductive …
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk
Coding variants represent many of the strongest associations between genotype and
phenotype; however, they exhibit inter-individual differences in effect, termed 'variable …
phenotype; however, they exhibit inter-individual differences in effect, termed 'variable …
Pan-transcriptome reveals a large accessory genome contribution to gene expression variation in yeast
É Caudal, V Loegler, F Dutreux, N Vakirlis… - Nature Genetics, 2024 - nature.com
Gene expression is an essential step in the translation of genotypes into phenotypes.
However, little is known about the transcriptome architecture and the underlying genetic …
However, little is known about the transcriptome architecture and the underlying genetic …
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–
3% of the general population. Although research into the genetic causes of ID has recently …
3% of the general population. Although research into the genetic causes of ID has recently …
Genotypic context and epistasis in individuals and populations
Genes encode components of coevolved and interconnected networks. The effect of
genotype on phenotype therefore depends on genotypic context through gene interactions …
genotype on phenotype therefore depends on genotypic context through gene interactions …
Circuit diversification in a biofilm regulatory network
Genotype-phenotype relationships can vary extensively among members of a species. One
cause of this variation is circuit diversification, the alteration of gene regulatory relationships …
cause of this variation is circuit diversification, the alteration of gene regulatory relationships …
[PDF][PDF] Natural genetic variation as a tool for discovery in Caenorhabditis nematodes
Over the last 20 years, studies of Caenorhabditis elegans natural diversity have
demonstrated the power of quantitative genetic approaches to reveal the evolutionary …
demonstrated the power of quantitative genetic approaches to reveal the evolutionary …
Paralog buffering contributes to the variable essentiality of genes in cancer cell lines
What makes a gene essential for cellular survival? In model organisms, such as budding
yeast, systematic gene deletion studies have revealed that paralog genes are less likely to …
yeast, systematic gene deletion studies have revealed that paralog genes are less likely to …
CRISPR/Cas9-mediated knockout of myostatin in Chinese indigenous Erhualian pigs
CRISPR/Cas9 has emerged as one of the most popular genome editing tools due to its
simple design and high efficiency in multiple species. Myostatin (MSTN) negatively …
simple design and high efficiency in multiple species. Myostatin (MSTN) negatively …