Estimation of relatedness between pairs of samples using NGSremix. k0, k1, and k2 indicate the proportion of each genome where each pair of individuals share 0, 1, or 2 alleles identical-by-descent,
These files contain next-generation sequencing data (sequencer: Ion Torrent PGM) aligned to hg19 genome used to produce the data presented in tables and figures of the manuscript.
The diagnosis of Marfan spectrum includes a large number of clinical criteria. Although the identification of pathogenic variants contributes to the diagnostic process, its value to the prediction of