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From GWAS to gene: transcriptome-wide association studies and other methods to functionally understand GWAS discoveries
Since their inception, genome-wide association studies (GWAS) have identified more than a
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …
Map** complex disease traits with global gene expression
Variation in gene expression is an important mechanism underlying susceptibility to
complex disease. The simultaneous genome-wide assay of gene expression and genetic …
complex disease. The simultaneous genome-wide assay of gene expression and genetic …
Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS
Although genome-wide association studies (GWAS) of complex traits have yielded more
reproducible associations than had been discovered using any other approach, the loci …
reproducible associations than had been discovered using any other approach, the loci …
A genome-wide scan for common alleles affecting risk for autism
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the
known genetic risk has been traced to rare variants, principally copy number variants …
known genetic risk has been traced to rare variants, principally copy number variants …
Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse
Recent genomic profiling of childhood acute lymphoblastic leukemia (ALL) identified a high-
risk subtype with an expression signature resembling that of Philadelphia chromosome …
risk subtype with an expression signature resembling that of Philadelphia chromosome …
Sherlock: detecting gene-disease associations by matching patterns of expression QTL and GWAS
Genetic map** of complex diseases to date depends on variations inside or close to the
genes that perturb their activities. A strong body of evidence suggests that changes in gene …
genes that perturb their activities. A strong body of evidence suggests that changes in gene …
The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress
Alterations of protein folding or Ca2+ levels within the endoplasmic reticulum (ER) result in
the unfolded-protein response (UPR), a process considered as an endogenous inducer of …
the unfolded-protein response (UPR), a process considered as an endogenous inducer of …
SCAN: SNP and copy number annotation
Motivation: Genome-wide association studies (GWAS) generate relationships between
hundreds of thousands of single nucleotide polymorphisms (SNPs) and complex …
hundreds of thousands of single nucleotide polymorphisms (SNPs) and complex …
Genetics of human gene expression: map** DNA variants that influence gene expression
VG Cheung, RS Spielman - Nature Reviews Genetics, 2009 - nature.com
There is extensive natural variation in human gene expression. As quantitative phenotypes,
expression levels of genes are heritable. Genetic linkage and association map** have …
expression levels of genes are heritable. Genetic linkage and association map** have …
Clinically relevant genetic variations in drug metabolizing enzymes
N Pinto, M Eileen Dolan - Current drug metabolism, 2011 - ingentaconnect.com
In the field of pharmacogenetics, we currently have a few markers to guide physicians as to
the best course of therapy for patients. For the most part, these genetic variants are within a …
the best course of therapy for patients. For the most part, these genetic variants are within a …