Week 9

Maya Anand bio photo By Maya Anand

This week I started off with processing the 31 samples (relatives of the original 2504) which were in a separate file for download from 1KGP. Processing the files took several days to run (through a modified pipeline used for the original 2504). Once they were done processing, I added these 31 samples to the ped files and re-ran germline and ERSA. Now, the results looked more like we expected: Germline and ERSA were able to detect 1 and 2 degree familial relationships between samples 1KGP had indicated were trios (mother, father, child). Additionally, Germline/ERSA found some close relationships that were not indicated by the 1000 Genomes Project which may warrant further analysis at some point.