Research Topic

Identification of rare genetic variants contributing to human diseases

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About this Research Topic

With the rapid advances of genotyping and sequencing technologies, more and more rare genetics variants across human genomes have been discovered and are of growing interest in understanding their functions and effects on human phenotypes, especially those diseases with significant influences on human health. ...

With the rapid advances of genotyping and sequencing technologies, more and more rare genetics variants across human genomes have been discovered and are of growing interest in understanding their functions and effects on human phenotypes, especially those diseases with significant influences on human health. This topic will focus on the theories, methodologies and applications relevant to how the detect and identify rare genetic variants that contribute to human diseases. The topic will cover (but not limited to) the sections below.

1.Rare variants genotyping/calling, QC, validation and control for genotyping/sequencing error;
2.Discovering novel variants (including recent mutations, de novo mutations, etc);
3.Annotation and prediction of functions of rare variants;
4.Discovering rare, causal variants in mendelian diseases (experimental design, statistical methods, power, sample size, etc);
5.Associating rare variants with human complex diseases (experimental design, statistical methods, power, sample size, etc);
6.Burden and non-burden test methods for genes, pathways and other self-defined variant sets;
7. Estimating effect size and heritability of rare variants.
8.Integrative analysis of rare and common variants;
9.Any disease-specific applications relevant to this topic.


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