Machine Learning-based scoring and classification of genetic variants aids the assessment of clinical findings and is employed to prioritize variants in diverse genetic studies and analyses. Combined Annotation-Dependent Depletion (CADD) is one of th...
Synonymous single nucleotide variants (sSNVs) are common in the human genome but are often overlooked. However, sSNVs can have significant biological impact and may lead to disease. Existing computational methods for evaluating the effect of sSNVs su...
Understanding the functional consequence of noncoding variants is of great interest. Though genome-wide association studies or quantitative trait locus analyses have identified variants associated with traits or molecular phenotypes, most of them are...
Several studies to date have proposed different types of interpreters for measuring the degree of pathogenicity of variants. However, in predicting the disease type and disease-gene associations, scholars face two essential challenges, namely the vas...
Genome sequencing is enabling precision medicine-tailoring treatment to the unique constellation of variants in an individual's genome. The impact of recurrent pathogenic variants is often understood, however there is a long tail of rare genetic vari...
Proceedings of the National Academy of Sciences of the United States of America
Mar 2, 2021
Mapping landscape connectivity is important for controlling invasive species and disease vectors. Current landscape genetics methods are often constrained by the subjectivity of creating resistance surfaces and the difficulty of working with interact...
Database : the journal of biological databases and curation
Jan 1, 2020
Congenital heart disease (CHD) is one of the most common birth defects, with complex genetic and environmental etiologies. The reports of genetic variation associated with CHD have increased dramatically in recent years due to the revolutionary devel...
Cancer and its surgical treatment are among the most important triggering events for persistent pain, but additional factors need to be present for the clinical manifestation, such as variants in pain-relevant genes. In a cohort of 140 women undergoi...
Mathematical biosciences and engineering : MBE
Feb 20, 2019
For discovery of new usage of drugs, the function type of their target genes plays an important role, and the hypothesis of "Antagonist-GOF" and "Agonist-LOF" has laid a solid foundation for supporting drug repurposing. In this research, an active ge...