Bioinformatics is a fast-growing interdisciplinary field in which the demand for quality education exceeds the supply, especially in developing regions and countries. A massive open online course (MOOC) is a new model for education that delivers videotaped lectures and other course materials over the Internet for all interested persons around the globe to learn for free. Here we present our MOOC “Bioinformatics: Introduction and Methods,” which is the second bioinformatics MOOC in the world and one of the first batch of seven MOOCs from China. In the first two runs of this bilingual MOOC, more than 30,000 students with diverse backgrounds registered from 110 countries and regions. In this manuscript, we present the content design of the MOOC, the demographic profiles and learning patterns of the students, the requirement for English support, and feedback from on-campus students. We offer a few suggestions to other scientists who may be interested in creating a MOOC. We also remember the S* course, a successful open online bioinformatics course that ran from 2001 to 2007, long before the current wave of MOOCs. We believe that MOOC education has great potential to enhance global bioinformatics education.

Postzygotic single-nucleotide mutations (pSNMs) have been studied in cancer and a few other overgrowth human disorders at whole-genome scale and found to play critical roles. However, in clinically unremarkable individuals, pSNMs have never been identified at whole-genome scale largely due to technical difficulties and lack of matched control tissue samples, and thus the genome-wide characteristics of pSNMs remain unknown. We developed a new Bayesian-based mosaic genotyper and a series of effective error filters, using which we were able to identify 17 SNM sites from ∼80× whole-genome sequencing of peripheral blood DNAs from three clinically unremarkable adults. The pSNMs were thoroughly validated using pyrosequencing, Sanger sequencing of individual cloned fragments, and multiplex ligation-dependent probe amplification. The mutant allele fraction ranged from 5%-31%. We found that C→T and C→A were the predominant types of postzygotic mutations, similar to the somatic mutation profile in tumor tissues. Simulation data showed that the overall mutation rate was an order of magnitude lower than that in cancer. We detected varied allele fractions of the pSNMs among multiple samples obtained from the same individuals, including blood, saliva, hair follicle, buccal mucosa, urine, and semen samples, indicating that pSNMs could affect multiple sources of somatic cells as well as germ cells. Two of the adults have children who were diagnosed with Dravet syndrome. We identified two non-synonymous pSNMs in SCN1A, a causal gene for Dravet syndrome, from these two unrelated adults and found that the mutant alleles were transmitted to their children, highlighting the clinical importance of detecting pSNMs in genetic counseling.