Pedigree graphs, which represent family relationships, are often constructed by collecting data from genealogical records to determine which pairs of people are parent and child. This process is expensive, and small mistakes in data collection–for example, one missing parent-child relationship–can cause large differences in the pedigree graphs created. In this paper, we introduce a simple pedig...

Geographically limited dispersal can shape genetic population structure and result in a correlation between genetic and geographic distance, commonly called isolation-by-distance. Despite the prevalence of isolation-by-distance in nature, to date few studies have empirically demonstrated the processes that generate this pattern, largely because few populations have direct measures of individual...

BACKGROUND The Brugada syndrome is an inherited cardiac arrhythmia associated with high risk of sudden death. Although 20% of patients with Brugada syndrome carry mutations in SCN5A, the molecular mechanisms underlying this condition are still largely unknown. METHODS AND RESULTS We combined whole-exome sequencing and linkage analysis to identify the genetic variant likely causing Brugada syn...

AIMS To characterise the inheritance of ptosis in one particular pedigree. METHODS The pedigree was analysed clinically and genetically to assess the mode of inheritance and to ascribe a gene locus for the condition. RESULTS Affected members of the pedigree have bilateral symmetrical congenital isolated ptosis, a condition which is linked to genetic markers on the X chromosome in this famil...

BACKGROUND The kinship2 package is restructured from the previous kinship package. Existing features are now enhanced and new features added for handling pedigree objects. METHODS Pedigree plotting features have been updated to display features on complex pedigrees while adhering to pedigree plotting standards. Kinship matrices can now be calculated for the X chromosome. Other methods have be...