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Incomplete penetrance and variable expressivity: from clinical studies to population cohorts
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 …
Using human genetics to improve safety assessment of therapeutics
Human genetics research has discovered thousands of proteins associated with complex
and rare diseases. Genome-wide association studies (GWAS) and studies of Mendelian …
and rare diseases. Genome-wide association studies (GWAS) and studies of Mendelian …
The mutational constraint spectrum quantified from variation in 141,456 humans
Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the …
about the phenotypic consequences of gene disruption: genes that are crucial for the …
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism's …
about the phenotypic consequences of gene disruption: genes critical for an organism's …
Functional map** and annotation of genetic associations with FUMA
A main challenge in genome-wide association studies (GWAS) is to pinpoint possible causal
variants. Results from GWAS typically do not directly translate into causal variants because …
variants. Results from GWAS typically do not directly translate into causal variants because …
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and
together with polygenetic risk stratification can contribute towards planning of feasible and …
together with polygenetic risk stratification can contribute towards planning of feasible and …
Discovery of 42 genome-wide significant loci associated with dyslexia
Reading and writing are crucial life skills but roughly one in ten children are affected by
dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up …
dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up …
[HTML][HTML] Genomic analysis in the age of human genome sequencing
Affordable genome sequencing technologies promise to revolutionize the field of human
genetics by enabling comprehensive studies that interrogate all classes of genome …
genetics by enabling comprehensive studies that interrogate all classes of genome …
Rare-variant collapsing analyses for complex traits: guidelines and applications
The first phase of genome-wide association studies (GWAS) assessed the role of common
variation in human disease. Advances optimizing and economizing high-throughput …
variation in human disease. Advances optimizing and economizing high-throughput …