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Multi-omics profiling for health
The world has witnessed a steady rise in both non-infectious and infectious chronic
diseases, prompting a cross-disciplinary approach to understand and treating disease …
diseases, prompting a cross-disciplinary approach to understand and treating disease …
Pleiotropy, epistasis and the genetic architecture of quantitative traits
TFC Mackay, RRH Anholt - Nature Reviews Genetics, 2024 - nature.com
Pleiotropy (whereby one genetic polymorphism affects multiple traits) and epistasis
(whereby non-linear interactions between genetic polymorphisms affect the same trait) are …
(whereby non-linear interactions between genetic polymorphisms affect the same trait) are …
Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets
JH Zhao, D Stacey, N Eriksson… - Nature …, 2023 - nature.com
Circulating proteins have important functions in inflammation and a broad range of diseases.
To identify genetic influences on inflammation-related proteins, we conducted a genome …
To identify genetic influences on inflammation-related proteins, we conducted a genome …
Systematic differences in discovery of genetic effects on gene expression and complex traits
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
Nucleotide Transformer: building and evaluating robust foundation models for human genomics
The prediction of molecular phenotypes from DNA sequences remains a longstanding
challenge in genomics, often driven by limited annotated data and the inability to transfer …
challenge in genomics, often driven by limited annotated data and the inability to transfer …
Common and rare variant associations with clonal haematopoiesis phenotypes
Clonal haematopoiesis involves the expansion of certain blood cell lineages and has been
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …
Map** genomic loci implicates genes and synaptic biology in schizophrenia
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy
IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular
deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney …
deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney …
Single-cell eQTL map** identifies cell type–specific genetic control of autoimmune disease
The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype
that we have previously shown to be highly efficient for discovery of genetic associations …
that we have previously shown to be highly efficient for discovery of genetic associations …