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
Tezak: Challenges for NGS IVD devs: limited avail of clinical specimens! (her exclamation) Intended to get broader claims... #genomicfest
9:33am October 4th 2017 via Hootsuite
Tezak: SSED's for each are online. Praxis (ILMN) first for negative. Onto Liquid Biopsies: AACR-FDA https://t.co/HrKemohOjv #genomicfest
9:32am October 4th 2017 via Hootsuite
Tezak: Mentions first NGS CDx; FoundationFocus CDxBRCA Dec '16. Oncomine TMO June '17 with multiple markers/Rx; Praxis Ext KRAS #genomicfest
9:30am October 4th 2017 via Hootsuite
Tezak: When she joined 15y ago, CDx (companion Dx) was 'up and coming'. Listed chart of approvals https://t.co/TGp1zLOj3n #genomicfest
Zivana Tezak (Assoc Dir, Science and Technology, OIR CDRH FDA) The FDA, precision medicine and genomic tests #genomicfest
9:28am October 4th 2017 via Hootsuite
Great to meet @DNABARCODE in-person (CEO, @GExInc ) and colleague Tanya Kanigan at #genomicsfest https://t.co/qJITObvzEY
8:08pm October 3rd 2017 via Hootsuite
Strata Oncology, UCSF Launch Prostate Cancer Precision Medicine Initiative | GenomeWeb https://t.co/MBNrOXzA80
7:00pm October 3rd 2017 via Hootsuite
RT @eperlste: @Dereklowe Silly Derek, biology is just a data science problem https://t.co/71XbUBa0bO
6:50pm October 3rd 2017 via Hootsuite
Sweeney: '17 ref https://t.co/Qa8NYFCsEA Describes how the project registry operates #Genomicsfest
4:23pm October 3rd 2017 via Hootsuite
Sweeney: Hopkins, MDAnderson, MSKCC, Princess Margaret, Vanderbilt, Gustave Roussy, Netherlance Cancer Inst #Genomicsfest
3:36pm October 3rd 2017 via Hootsuite
Sweeney: 8 leading academic centers, collected historical and ongoing clinical sequencing efforts. Participants - Dana Farber #Genomicsfest
3:35pm October 3rd 2017 via Hootsuite
Shawn Sweeney (Project GENIE, AACR) 32K patients, int'l cancer registry w/real-world clinico-genomic data. #genomicsfest
3:34pm October 3rd 2017 via Hootsuite
Forum: Adv. precision medicine through linked real-world clinico-genomic datasets #Genomicsfest Moderator: Neal Meropol (Flatiron Health)
3:32pm October 3rd 2017 via Hootsuite
Rehm: 300 conflicting var's between Emory and GeneDx: 72% resolved. Why: 30% unpublished; 50% reassess https://t.co/gYwcPVhIX5 #Genomicsfest
3:26pm October 3rd 2017 via Hootsuite
Rehm: Even when rules given: not the same interpretation. ClinVar has 512K submissions, 60 countries, many sources #Genomicsfest
3:22pm October 3rd 2017 via Hootsuite
Rehm: Also put together a ClinGen Curator Interface (open to the public after registration) https://t.co/GHMaDRbD7b #Genomicsfest
3:20pm October 3rd 2017 via Hootsuite
Rehm: About 1300 genes at ClinGen https://t.co/teJwVhAF3D Improving how variants are named by ACMG https://t.co/WDcLtGhTqf #Genomicsfest
3:19pm October 3rd 2017 via Hootsuite
Rehm: 200-300 var/pt. 0-7 in MedSeq; 0-2 in BabySeq variants reported. Var's that look to be disrupting genes - may not be #Genomicsfest
3:14pm October 3rd 2017 via Hootsuite
Rehm: In 15y - vast majority the variants have only been observed 1x. 17% interpreted differently ref https://t.co/k6VyjoIsHw #Genomicsfest
3:13pm October 3rd 2017 via Hootsuite
Heidi Rehm (Partners, Harvard) ClinGen's efforts to enhance the reliabilty of variant databases through expert review #Genomicsfest
3:10pm October 3rd 2017 via Hootsuite
