Growth in human genetics research is driving the increasing use of genetics in medical practice. The environment of the Iowa Institute of Human Genetics (IIHG) provides unique opportunities to make progress in both the discovery and translational phases of human genetics. The IIHG is a statewide resource that promotes clinical care, research, and education in human genetics and is focused on bringing personalized genomic medicine to the state of Iowa.
May i ask, how exactly do you find these universal primers? Do we just type 16s in NCBI, then find the primer for that? Because usually, in NCBI, they're species specific, not umiversal
I am currently studying Wilson Disease, and based on the literature I have gathered, there is no well-established genotype-phenotype association. Also, there are multiple mutations across all 21 exons of the ATP7B gene. But most of the literature also state that they are using ACMG guidelines for classifying variants. Any comment on that?
I don't understand. If you want to detect what genes are off or on and by how much they are expressed then why not just use epigenomics instead of transcriptomics?
Thank you 10x team and the host. Can I get a copy of the slides to use for my rehearsals? I am trying to understand the work flow of single cell seq to use on my postgraduate project and this could be of great help. Again, thank you so much for the presentation.
I have chronic gut issues that comes along with all other kinds of side effects. Is there any way to get into this study as a patient? I have an appointment at Ohio state coming soon. My life is falling apart and most of my doctors don't seem to understand the severity of it.
Thanks so much for the video. Very informative. Uts my first time to read about metagenomics because I have an interest for my PhD and your video motivates me. Thanks 😊
This is really terrific, thank you so much for providing it to all. The 10X folks did a great job IMHO: very well organized and clear, many tips on how to succeed. Hoping to run my first 10X experiment very soon and this is very reassuring information to have at hand. Hopefully I can find a pdf of these presentations, but if not I'll just take screen captures. Cheers!
BA1 is benign-standalone not benign-automatic. Its weight is so heavy that just that criteria itself can cause the variant to be considered benign as the name implies.
Yes, the formal name is benign stand-alone. In practice, unless dealing with a well-known and established high-frequency pathogenic variant such as the global exception list, if BA1 is satisfied, the variant can be automatically considered benign without considering other criteria.
Could you guys potentially consider copy-number variant discovery using NGS data? I work at a university and most of our research staff no about copy-numbers and the data you get back, but have no clue how this data is derived. The resources available are pretty high level!
Im an undegrad writing a thesis for my honors program. COVID destroyed my proposal and had to switch up to a remote RNAseq analysis - you've just saved my college career sir thank you
