Patterns of inheritance: family trees Pedigree analysis Doctors can use a pedigree analysis chart to show how genetic disorders are inherited in a family.

High-throughput sequencing of related individuals has become an important tool for studying human disease. However, owing to technical complexity and lack of available tools, most pedigree-based ...

Whole-exome sequencing (WES) has become the strategy of choice to identify causal variants in monogenic disorders. However, the list of candidate variants can be quite large, including false positives ...