Turnitin
降AI改写
早检测系统
早降重系统
Turnitin-UK版
万方检测-期刊版
维普编辑部版
Grammarly检测
Paperpass检测
checkpass检测
PaperYY检测
Integration of protein structure and population-scale DNA sequence data for disease gene discovery and variant interpretation
The experimental and computational techniques for capturing information about protein
structures and genetic variation within the human genome have advanced dramatically in …
structures and genetic variation within the human genome have advanced dramatically in …
Statistical methods for assessing the effects of de novo variants on birth defects
With the development of next-generation sequencing technology, de novo variants (DNVs)
with deleterious effects can be identified and investigated for their effects on birth defects …
with deleterious effects can be identified and investigated for their effects on birth defects …
Snai2‐mediated upregulation of NADSYN1 promotes bladder cancer progression by interacting with PHB
LJ Jiang, SB Guo, ZH Zhou, ZY Li… - Clinical and …, 2024 - pmc.ncbi.nlm.nih.gov
Dear Editor, Bladder cancer is recognised as the 10th most prevalent cancer worldwide, with
men having a lifetime risk of 1.1% and women. 27%. 1, 2 The epithelial-to-mesenchymal …
men having a lifetime risk of 1.1% and women. 27%. 1, 2 The epithelial-to-mesenchymal …
[HTML][HTML] Missense variants reveal functional insights into the human ARID family of gene regulators
Missense variants are alterations to protein coding sequences that result in amino acid
substitutions. They can be deleterious if the amino acid is required for maintaining structure …
substitutions. They can be deleterious if the amino acid is required for maintaining structure …
Excalibur: A new ensemble method based on an optimal combination of aggregation tests for rare-variant association testing for sequencing data
The development of high-throughput next-generation sequencing technologies and large-
scale genetic association studies produced numerous advances in the biostatistics field …
scale genetic association studies produced numerous advances in the biostatistics field …
Delineation of functionally essential protein regions for 242 neurodevelopmental genes
Neurodevelopmental disorders (NDDs), including severe paediatric epilepsy, autism and
intellectual disabilities are heterogeneous conditions in which clinical genetic testing can …
intellectual disabilities are heterogeneous conditions in which clinical genetic testing can …
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease–related patterns
More than 90% of genetic variants are rare in most modern sequencing studies, such as the
Alzheimer's Disease Sequencing Project (ADSP) whole-exome sequencing (WES) data …
Alzheimer's Disease Sequencing Project (ADSP) whole-exome sequencing (WES) data …
Pharmacogenomic and Statistical Analysis
Genetic variants can alter response to drugs and other therapeutic interventions. The study
of this phenomenon, called pharmacogenomics, is similar in many ways to other types of …
of this phenomenon, called pharmacogenomics, is similar in many ways to other types of …
An association test of the spatial distribution of rare missense variants within protein structures improves statistical power of sequencing studies
Over 90% of variants are rare, and 50% of them are singletons in the Alzheimer's Disease
Sequencing Project Whole Exome Sequencing (ADSP WES) data. However, either single …
Sequencing Project Whole Exome Sequencing (ADSP WES) data. However, either single …
Using 3D protein models to uncover genetic risk in ALS
J Hermens - 2024 - studenttheses.uu.nl
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease that is
characterized by the involvement of rare genetic variants. Disease association of single rare …
characterized by the involvement of rare genetic variants. Disease association of single rare …