Schweitzer: 'Genomics for the rest of us': VitisGen2 to improve wine and table grapes (USDA), Gates Found. RepGen for crops #genomicsfest
11:14am October 4th 2017 via Hootsuite
Schweitzer: Do a lot of non-human work. Birds, plants, veterinary medicine in Ithaca (horses and sharks), even entomology #genomicsfest
11:12am October 4th 2017 via Hootsuite
Peter Schweitzer (Cornell Univ) Implementing new technologies for genomes and cutting-edge research in a shared facility #genomicsfest
11:10am October 4th 2017 via Hootsuite
Kellis: W/ full clinical record: a huge spectrum. What will systematic mining show? What underlying biology will be revealed? #genomicsfest
10:36am October 4th 2017 via Hootsuite
Kellis: Phenotype is 1000's of datapoints per individual. GWAS has trad been done with a single phenotype. #genomicsfest
Q: Ethical standpoint? Pickrell: A fundamental ethical one is 'should the pt get their own data?' #genomicsfest
10:35am October 4th 2017 via Hootsuite
Zimmer: Academic usage? Gerstein: Students dig into Carl's genome as an individual; powerful. 'Real people' impt connection #genomicsfest
10:27am October 4th 2017 via Hootsuite
Gerstein: A question is how this will be monetized; could be via insurance. #genomicsfest
10:26am October 4th 2017 via Hootsuite
Sutti: But GINA doesn't protect against long-term insurance in the US. Will be a problem in the future #genomicsfest
Q: Genes and role in court system, insurance? Imptc of counselors? Sutti: Walk through risks/benefits WRT test. GINA reviewed #genomicsfest
10:25am October 4th 2017 via Hootsuite
Kellis: A huge amt to learn - env and genetics and phenotypic info; epigenetics can give that bridge to contextualize #genomicsfest
10:24am October 4th 2017 via Hootsuite
Kellis: As diet changes, genetic effects may show. Thus dynamic; info can be gathered, env and phenotypic data collected #genomicsfest
10:23am October 4th 2017 via Hootsuite
Pickrell: Have multiple groups giving their best effort, and then compete for the best answer. Sutti: need for std testing #genomicsfest
10:20am October 4th 2017 via Hootsuite
Q: How to communicate info? Need to standardize? Pickrell: "no" Gerstein: At least try to std-ize, large-scale statistics #genomicsfest
10:19am October 4th 2017 via Hootsuite
Pickrell: Spend time asking about family history, understand what people think they are asking, to get the connection #genomicsfest
10:18am October 4th 2017 via Hootsuite
Kellis: Potential in banking info, samples, over time (and starting a company around this idea). Genetic hints, biol knowledge #genomicsfest
10:16am October 4th 2017 via Hootsuite
Kellis: Bridging the gap between what can be modulated; epigenetic changes; systematic measurements possible. #genomicsfest
10:15am October 4th 2017 via Hootsuite
Kellis: "Not everyone will need to go through what you Carl went through' Points out the danger of determinism. #genomicsfest
10:14am October 4th 2017 via Hootsuite
Zimmer: Points out somatic mosaicism is real. A huge response, as people have image of genome as 'sacred, unchanging object' #genomicsfest
10:12am October 4th 2017 via Hootsuite
Neat Game of Genomes panel discussion at #genomicsfest with @joe_pickrell @manoliskellis @markgerstein and hosted b… https://t.co/Yrn9FPoTGe
Pickrell: Can make it broadly available - to millions of people - and powerful information. A thorny topic but 'overall great' #genomicsfest
10:08am October 4th 2017 via Hootsuite
Zimmer: How do you approach recreation vs bigger issues? Pickrell: Gencove founded to look at it wider. Genomics out of niche #genomicsfest
10:07am October 4th 2017 via Hootsuite
Sutti (genetic counselor): Fun things about history, even dating. Ethnicity, demographics, but can be marketed differently #genomicsfest
10:06am October 4th 2017 via Hootsuite
Zimmer: Rare Neanderthal vars? Gerstein: FDA treated 23andMe 'unfortunate' WRT split between recreation and healthcare #genomicsfest
10:05am October 4th 2017 via Hootsuite
Kellis: For rare vars, clear 'you need to act now'; but for predisposition, how reliable is the info, long-term behavior? #genomicsfest
10:04am October 4th 2017 via Hootsuite
Zimmer: Recreation vs healthcare - will you make assumptions? Kellis: Could it be a 'gateway' for determinism? #genomicsfest
10:03am October 4th 2017 via Hootsuite
Kellis: Neanderthal knowledge won't 'stress you out'; but disease predisposition may be a problem. #genomicsfest
10:02am October 4th 2017 via Hootsuite
Panelists: Mark Gerstein (Yale), Selena Vattathil, Joseph Pickrell (NYGC), Manolis Kellis (Broad), Sheila Sutti (BWHosp) #genomicsfest
10:01am October 4th 2017 via Hootsuite
Zimmer: Raises questions: what info should consumers get about Neanderthal genes? #genomicsfest
9:59am October 4th 2017 via Hootsuite
Zimmer: Mark Gerstein (Yale) making it as part of his lab. https://t.co/UJaJ1D4sOC And Insitome telling stories about it #genomicsfest
Zimmer: Book coming out in May '18 'She has her mother's laugh' - how we can understand ourselves through our DNA #genomicsfest
9:58am October 4th 2017 via Hootsuite
Zimmer: Piece on StatNews https://t.co/6aWwjVU2l2 is a multi-part series on what he's learned from his own genome. #genomicsfest
9:57am October 4th 2017 via Hootsuite
Zimmer: Neanderthal interbreeding occurred 'multiple times'. Vattathil at Princeton gave list of Neanderthal genes he has #genomicsfest
9:56am October 4th 2017 via Hootsuite
Zimmer: Joseph Pickrell (NYGC and Gencove) looked at ancestry. 43% ashkenazi; 25% italian ('it doesn't come up in family hist) #genomicsfest
9:55am October 4th 2017 via Hootsuite
Zimmer: Working w/Manolis Kellis (Broad), mesenchymal adipocyte precursor - mutation that favors 'fat storage' vs 'fat burn' #genomicsfest
9:54am October 4th 2017 via Hootsuite
Zimmer: Shows genetic diversity Venn diagram across ethnicities worldwide. Arylamine N-acetylatransferase as an example #genomicsfest
9:53am October 4th 2017 via Hootsuite
Zimmer: Link to Game of Genomes site https://t.co/MAqjNSXXH2 at StatNews #genomicsfest
9:50am October 4th 2017 via Hootsuite
Photo of @carlzimmer at #genomicsfest before a panel, called Game of Genomes https://t.co/50FwDEXxfu
Tezak: on indel >13bp. 50 injected vars into NA12878 WES dataset. Very interesting to see how close they came to some VAFs #genomicsfest
9:46am October 4th 2017 via Hootsuite
Tezak: From 86, 45 called all 50 var's. VAF results avail for 78 entries. VAF at 20%, 50%. 5 SNV, 45 indels, 11 10-20bp #genomicsfest
9:45am October 4th 2017 via Hootsuite
Tezak: #genomicsfest Latest truth challenge closed last night. Results from https://t.co/vRmVEyYQCd 86 entries from 30 participants
9:44am October 4th 2017 via Hootsuite
Tezak: Many ways to cp datasets, FN/FP rates, metrics and coverage. Truth Challenges at precisionFDA Hidden Treasures #genomicsfest
9:42am October 4th 2017 via Hootsuite
Tezak: GA4GH, many others. Free to join, can use, add apps. Many who use it are informatics people; want wider use, audience #genomicsfest
9:41am October 4th 2017 via Hootsuite
Tezak: Ref stds don't have to 'be perfect'. precisionFDA: cloud-based, to provide a library of ref samples, tools #genomicsfest
9:40am October 4th 2017 via Hootsuite
Tezak: Want to make sure that parallel efforts complement each other. SpotDx, MAQC/SEQC etc. #genomicsfest
9:39am October 4th 2017 via Hootsuite
Tezak: Need reference samples (NIST, WHO) to compare performance to each other. Tons of parallel efforts ongoing. GIAB, GeT-RM #genomicsfest
9:38am October 4th 2017 via Hootsuite
Tezak: FDA's concepts - technical/analytical stds for NGS; use of curated databases to provide clinical evidence #genomicsfest
Tezak: Corrected link for analytical stds for germline: https://t.co/V0T1fdtiTN #genomicsfest
9:37am October 4th 2017 via Hootsuite
Tezak: Analytical stds draft guidance https://t.co/JmrO6d73GK What to do to design, dev and analtyical validation of germline #genomicsfest
9:36am October 4th 2017 via Hootsuite
Tezak: Dev a more nimble regulatory approach - under the 21st Century Cures act. Draft guidelines July '16 #genomicfest
9:35am October 4th 2017 via Hootsuite
