About this Research Topic
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.
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.