In Mendelian inheritance patterns, you receive one version of a gene, called an allele, from each parent. These alleles can be dominant or recessive. Non-Mendelian genetics don’t completely follow ...

Understanding the consequences of genotype for phenotype (which ranges from molecule-level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many measures of the ...

In studies of families with rare disease, it is common to screen for de novo mutations, as well as recessive or dominant variants that explain the phenotype. However, the filtering strategies and ...