A5107972355- Genomics and Phylogenetic Studies
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- RNA Research and Splicing
- Genomics and Chromatin Dynamics
- Cardiomyopathy and Myosin Studies
- Cancer Genomics and Diagnostics
- RNA and protein synthesis mechanisms
- Congenital heart defects research
- Congenital Heart Disease Studies
Chinese Nutrition Society
2017-2023
Chinese Academy of Sciences
2017-2023
Huazhong University of Science and Technology
2023
Tongji Hospital
2023
Wenzhou Medical University
2017-2018
With expanding applications of next-generation sequencing in medical genetics, increasing computational methods are being developed to predict the pathogenicity missense variants. Selecting optimal can accelerate identification candidate genes. However, performances different under various conditions have not been completely evaluated. Here, we compared 12 performance measures 23 based on three independent benchmark datasets: (i) clinical variants from ClinVar database related genetic...
A growing number of genomic tools and databases were developed to facilitate the interpretation variants, particularly in coding regions. However, these are separately available different online websites or databases, making it challenging for general clinicians, geneticists biologists obtain first-hand information regarding some particular variants genes interest. Starting with regions splice sties, we artificially generated all possible single nucleotide (n = 110 154 363) cataloged...
Abstract Somatic synonymous mutations are one of the most frequent genetic variants occurring in coding region cancer genomes, while their contributions to development remain largely unknown. To assess whether involved post-transcriptional regulation contribute etiology cancers, we collected whole exome data from 8,320 patients across 22 types. By employing our developed algorithm, PIVar, identified a total 22,948 posttranscriptionally impaired SNVs (pisSNVs) spanning 2,042 genes. In...
OAE Publishing Inc. is an international scholarly publisher specializing in peer-reviewed academic journals. To promote exchange and knowledge sharing, provides outstanding platform for biomedical experts scholars all over the world.