Quality Assessment of Genomic Sequence

The SHGC was funded by the National Human Genome Research Institute to assess the quality of the finished human genome sequence. We assessed, by resequencing and refinishing 35 Mb of sequence, the quality of the underlying sequencing and finishing of the Human Genome Consortium. The results of this study have been published in Nature, read the full publication at the link below. More information on the QA of the human sequence can also be found in the upcoming title “The Genome of Homo sapiens”from CSHL press for which we have written an article on QA of genomic sequences.

We are continuing to explore quality assessment of large whole genome data sets in collaboration with the Joint Genome Institute. More information about this topic will be available as the project progresses.