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Genomic newborn screening for rare diseases
Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …
Mutational signatures: emerging concepts, caveats and clinical applications
Whole-genome sequencing has brought the cancer genomics community into new territory.
Thanks to the sheer power provided by the thousands of mutations present in each patient's …
Thanks to the sheer power provided by the thousands of mutations present in each patient's …
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme
Abstract The Cancer Programme of the 100,000 Genomes Project was an initiative to
provide whole-genome sequencing (WGS) for patients with cancer, evaluating opportunities …
provide whole-genome sequencing (WGS) for patients with cancer, evaluating opportunities …
The genomic landscape of 2,023 colorectal cancers
Colorectal carcinoma (CRC) is a common cause of mortality, but a comprehensive
description of its genomic landscape is lacking,,,,,,–. Here we perform whole-genome …
description of its genomic landscape is lacking,,,,,,–. Here we perform whole-genome …
UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits
We present and assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of
PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in …
PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in …
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
AR Martin, E Williams, RE Foulger, S Leigh… - Nature …, 2019 - nature.com
A fundamental problem in rare-disease diagnostics is the lack of consensus as to which
genes have sufficient evidence to attribute causation. To address this issue, we have …
genes have sufficient evidence to attribute causation. To address this issue, we have …
A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release
We assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of PRSs for 28
diseases and 25 quantitative traits that has been made available on the individuals in UKB …
diseases and 25 quantitative traits that has been made available on the individuals in UKB …
Analysis of 10,478 cancer genomes identifies candidate driver genes and opportunities for precision oncology
Tumor genomic profiling is increasingly seen as a prerequisite to guide the treatment of
patients with cancer. To explore the value of whole-genome sequencing (WGS) in …
patients with cancer. To explore the value of whole-genome sequencing (WGS) in …
Big data in digital healthcare: lessons learnt and recommendations for general practice
Big Data will be an integral part of the next generation of technological developments—
allowing us to gain new insights from the vast quantities of data being produced by modern …
allowing us to gain new insights from the vast quantities of data being produced by modern …
The Singapore national precision medicine strategy
Precision medicine promises to transform healthcare for groups and individuals through
early disease detection, refining diagnoses and tailoring treatments. Analysis of large-scale …
early disease detection, refining diagnoses and tailoring treatments. Analysis of large-scale …