Kung: From GWAS to genome-wide causation studies (a prospective approach), potential to benefit individual pts. #AGBT17
6:14pm February 13th 2017 via Hootsuite
Kung: 'We moved the experiment to the pt'. compassionate use, AKT-inh. 1mo - all active disease disappeared (!) #AGBT17
6:13pm February 13th 2017 via Hootsuite
Kung: Precision Medicine - emphasis now on the medicine. 3yo girl - 8y of chemo, surgery. Found LAMTOR1-AKT1 fusion, TERT promoter #AGBT17
6:12pm February 13th 2017 via Hootsuite
Kung: PIPseq impacted 65-70% of all cases (surprising). 40% by RNA, 7% CNV, 45% cWES, 8% CNV+RNASeq #AGBT17
6:10pm February 13th 2017 via Hootsuite
Kung: With this data - modulate immunsupressives, allow immune system to eliminate rare recurrent cells. Looking deeply by NGS#AGBT17
6:09pm February 13th 2017 via Hootsuite
Kung: Describes an Adaptive Biotech-like barcoding of B-cells to monitor tags that indicates relapse after BMT. 1/1M cells to 5/1M #AGBT17
6:08pm February 13th 2017 via Hootsuite
Kung: Went from 80% to 0.04% in bone marrow, could then go to BMT after chemo plus dasatinib #AGBT17
6:06pm February 13th 2017 via Hootsuite
Kung: Via RNA-Seq, 175 samples x 112 genes, most like BCR-ABL1. A BCR-ABL-like disease, found NUP214-ABL1 for B-cell ALL Treatable. #AGBT17
6:05pm February 13th 2017 via Hootsuite
Kung: 30% novel discovery to guide clinical decision making. Moving beyond genetically-encoded vulnerabilities #AGBT17
6:04pm February 13th 2017 via Hootsuite
Kung: Large mass on 15mo old child forearm; looked like infantile fibrosarcoma. But neg for ETV6-NTRK3 fusion. Via RNAseq EML4-NTRK3 #AGBT17
6:01pm February 13th 2017 via Hootsuite
Kung: Thus they avoided ineffective Rx; 13% underlying cancer predisposition in all pts they treat. 'We need to look broadly' #AGBT17
6:00pm February 13th 2017 via Hootsuite
Kung: ID of germline ca risk: young female w/AML, referred for BMT; sister perfect HLA. Found RNX1 splice var, sister had it too #AGBT17
5:59pm February 13th 2017 via Hootsuite
Kung: 3% 'compelled inaction' with 'significant clinical impact'. #AGBT17
5:56pm February 13th 2017 via Hootsuite
Kung: Inactionable - MLL2 mut and, mild immune impairment. Ruled out BMT for hereditary HLH, large clinical impact (no BMT needed) #AGBT17
Kung: VUS in databases, but GOOG search picked it up in a letter to the editor! Imatinib, leukemia spread to 80% of blood #AGBT17
5:52pm February 13th 2017 via Hootsuite
Kung: Case: 5yo boy, relapsed, salvage chemo + BMT; relapsed again, no options. Seq showed cKit mut; a VUS Asn655Lys #AGBT17
5:51pm February 13th 2017 via Hootsuite
Kung: Could assign tiers - actionable, 2 assoc'd with other tumor types etc. Can ID actionable alterations. #AGBT17
5:50pm February 13th 2017 via Hootsuite
Kung: Decided to do PIPseq (Precision in Pediatric Sequencing), results w/in 3-4 weeks. Used WES of tissue/normal/RNASeq #AGBT17
5:49pm February 13th 2017 via Hootsuite
Kung: Cancer is the leading cause of disease-related death in children. 2/3rds of survivors have long-term consequences to chemo #AGBT17
5:48pm February 13th 2017 via Hootsuite
Andrew Kung (Memorial Sloan Kettering, NY) Clinical impact of NGS in pediatric oncology #AGBT17
RT @jgreid: EK: We need to come away from race/ethnicity as discrete ideas, treat them like the continuum that they are genetically #AGBT17
5:46pm February 13th 2017 via Twitter Web Client
A2 Kenny: Info is contained in family history; ethnicity, race is part of a continuum. #AGBT17
5:44pm February 13th 2017 via Hootsuite
Green: How often is self-reporting conflict w/genetic data? Kenny: Self-reporting is a social construct; genetics is biological... #AGBT17
5:43pm February 13th 2017 via Hootsuite
Kenny: Can use EHR to alert Drs. to detect this disorder, alert to get genetic testing. PM is individualized, ancestry w/shared risk #AGBT17
5:41pm February 13th 2017 via Hootsuite
Kenny: Found common freq in Caribbean, 2% of spine and joint degradation in Puerto Rico. Now working to implement clinically #AGBT17
5:40pm February 13th 2017 via Hootsuite
Kenny: Looking at protein fn - should be recessive, other evidence of dominance; looking for heterozygous, reviewed >50 hets... #AGBT17
5:39pm February 13th 2017 via Hootsuite
Kenny: Found evidence of Steel Syndrome (COL27A1 mutation) in EHR, can also find other non-documented features of disease #AGBT17
5:36pm February 13th 2017 via Hootsuite
Kenny: Describes mutation in COL27A1 '15 ref https://t.co/2iZaJYaKDQ homozygotes = extreme short stature in BioMe #AGBT17
RT @TorontoGenomics: EK: Created an array - MEGA range - global screening array from Illumina. Yes...Arrays! See...they are still useful p…
5:34pm February 13th 2017 via Twitter Web Client
Kenny: Showed Puerto Rico and geography (Southern Bronx, El Barrio in E Harlem). Genetic clusters / geographies overlaid #AGBT17
5:29pm February 13th 2017 via Hootsuite
.@TorontoGenomics Here is the Perturb-seq Cell paper https://t.co/9Sio4jVVFd #AGBT17
5:28pm February 13th 2017 via Twitter Web Client in reply to TorontoGenomics
Kenny: IBD: 5th cousins share 3cM of genetic haplotypes. 2D plot shows underlying structure. Ex: Ashkenazi Jewish plot overlay #AGBT17
5:26pm February 13th 2017 via Hootsuite
RT @torontogenomics: Perturb-seq https://t.co/eMWdZscBjE
5:25pm February 13th 2017 via Hootsuite
RT @torontogenomics: BA: Perturb-seq: pooled CRISPRi screening by scRNA-seq #agbt17
Kenny: About 35% born ex-US; 17% Carribbean; 16% EU, 5% Asia. Grandparents shift way from US (65% ex-US). PCA plot of BioMe shown. #AGBT17
5:23pm February 13th 2017 via Hootsuite
Kenny: Works with Regeneron; expect 70K participants by end of '18. How people self-report identity - can answer more than one. #AGBT17
5:21pm February 13th 2017 via Hootsuite
Kenny: (IBD=identity by descent) BioMe biobank dates back to '07; 37K consented; 80% genotyped, 100% WES, 30% WGS #AGBT17
5:20pm February 13th 2017 via Hootsuite
Kenny: Cp to actual demographic in their EHR, shifts toward more Afr Amer, https://t.co/Xc6sX6Vqy2 Will look at structure, IBD #AGBT17
5:19pm February 13th 2017 via Hootsuite
Kenny: Shows the ethnic diversity of the boroughs of NYC, >8M 33% Cauc, 26% AA, 28% Hispanic 12% Asian 4% mixed #AGBT17
5:18pm February 13th 2017 via Hootsuite
Eimear Kenny (Icahn SoM at Mt Sinai NY) Embracing global diversity for improving genomic medicine #AGBT17
5:15pm February 13th 2017 via Hootsuite
Green: Social media annc: reporting by blog/tweets is fine; photos are not allowed of presentations/posters; opting-out is fine. #AGBT17
5:14pm February 13th 2017 via Hootsuite
Weinstock: The HS student is Hanalei Pham of Carlmont HS in Belmont, CA and will present a poster on Tues... #AGBT17
5:09pm February 13th 2017 via Hootsuite
Weinstock: First time at #AGBT17 a father and son presenting posters. Another first: an abstract submitted by a HS student (!)
5:08pm February 13th 2017 via Hootsuite
"Mar-a-Lago was a bit too expensive" - kudos to Leisa Zigman of the Genome Partnership, back at Marco Island for #AGBT18 #AGBT17
5:06pm February 13th 2017 via Hootsuite
RT @coregenomics: The new box from @bionanogenomics ... meet Saphyr at #agbt17 https://t.co/mNFxOeiPXX
5:04pm February 13th 2017 via Hootsuite
Hi #AGBT17 - first plenary to soon start. Great to see @DeciBio and @10xgenomics and others from NCI, @jacksonlab https://t.co/mFmTGg1V35
5:01pm February 13th 2017 via Hootsuite
Webinar "Enabling Clinical Genomics with Highly Multiplexed and Patient-like Reference Materials" Mar 1 | @SeraCare https://t.co/Az1MqQCC9R
4:11pm February 10th 2017 via Hootsuite
FDA's Personalized Medicine Leader Mansfield Leaving for Liquid Biopsy Startup Grail | GenomeWeb https://t.co/CY1SjBLlYS
5:00pm February 9th 2017 via Hootsuite
Personalis Report Highlights Challenges in Variant Annotation | GenomeWeb ($) https://t.co/GWNgYwV7A0
9:35am February 9th 2017 via Hootsuite
Chan Zuckerberg Biohub to Foster High-Risk Technology Development | GenomeWeb ($) https://t.co/G5MDoVsjeG
8:21am February 9th 2017 via Hootsuite
