Berger #NGDx18 41% of pts have at least one targeted-able mutation. These are conservative - realistic, exclude TP53, KRAS
2:20pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 Shows many KBs - CIVic, OncoKB, Cancer Genome Interpreter, etc. Theirs: https://t.co/HFYTnhNGDQ '17… https://t.co/5YsYYNfmz4
Berger #NGDx18 Shows 2 pts w/novel ERBB2 in TNBC, and BRF in gallbladder ca: beneficiaries of basket trials.
2:18pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 Opportunities: interpret biol and clin effects of variants: annotating at gene and hotspot level. '1… https://t.co/YvTS0gitCG
2:17pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 https://t.co/op5TxbSCx6 through AACR Genomics Evidence Neoplasia Information Exchange (GENIE)
2:15pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 TERT: a telomerase promoter region. cBioPortal dev for #TCGA, now making available within MSKCC.
2:14pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 Shows tumor type distribution - busy slide! - TP53, KRAS, TERT are the most freq mutated genes.
2:13pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 to-date: 27K tumors, ave of 150-200 cases/week. Class II IVD approved Nov 17. Credits a large team -… https://t.co/rusLHprzJO
Berger #NGDx18 And flexible to incorporate emerging knowledge. MSK-IMPACT sequences 468 genes '17 Nature Med https://t.co/lnJd1f2xNq
2:11pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 Requires large-scale profiling - all classes of mutations in all cancer genes, in all tumor types. L… https://t.co/VONEHO8Ym5
2:09pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 Basis for larger clin trials (basket trials), first one Hyman NEJM '15 https://t.co/sDagbtnMy2 Rare… https://t.co/4GhbuEYYdZ
Berger #NGDx18 Oncogenic mutations are Rx targets - Lung adenocarcinoma, BRAF is 2% but can use melanoma Rx for lung.
2:07pm August 20th 2018 via Twitter Web Client
Mike Berger #NGDx18 (MSKCC) Enhanced clinical decision support enabled by high-throughput genomic profiling in oncology.
2:06pm August 20th 2018 via Twitter Web Client
Lek: #NGDx18 Showing chart of rare missense muts in healthy individuals.
2:04pm August 20th 2018 via Twitter Web Client
Lek: #NGDx18 Onto mtDNA - gnomAD and the Ashkenazi Jewish panel. Shows data from '17 https://t.co/IFrcS62nrk Vast n… https://t.co/rdqTiafHq4
1:57pm August 20th 2018 via Twitter Web Client
Lek: #NGDx18 Shows obs/expected plots, ID of genes intolerant of loss of fn variation.
1:55pm August 20th 2018 via Twitter Web Client
Lek: #NGDx18 '14 Nature Genet https://t.co/4QszpZnB7R Looking at sequence context model of mutation. CpG's for example are highly mutable
1:49pm August 20th 2018 via Twitter Web Client
Lek: #NGDx18 ExAC paper '16 Nature https://t.co/0th4EHbN1I For affected individual, narrow down from 11K to 132 sus… https://t.co/ftCFeXB0Ba
1:48pm August 20th 2018 via Twitter Web Client
Lek: #NGDx18 ExAC aggregated and called 92K exomes; released 60,706 'reference' samples. High-quality, unrelated in… https://t.co/zCOrvAKLIv
1:44pm August 20th 2018 via Twitter Web Client
Lek: #NGDx18 Goal of ExACT: 500K WES to-date as of 2012, silo'ed by project, inconsistently processed. Projects wer… https://t.co/OrUyR9Eghd
1:43pm August 20th 2018 via Twitter Web Client
Lek: #NGDx18 Rare disease is a detective game: which of 4M variants are causal for that rare disease? 11,928 missen… https://t.co/psQYcZcCWz
1:42pm August 20th 2018 via Twitter Web Client
RT @DaleYuzuki: New post: Pillar Biosciences ONCOReveal BRCA1 & BRCA2 Panel Performance - Pillar Biosciences https://t.co/4t5cSWXb4C htt
11:19am June 22nd 2018 via Twitter Web Client
Hi twitter folks - updated the Profile photo, courtesy of Yellowhale out of Potomac MD. If you are looking for a gr… https://t.co/MmDYYaIYd1
10:31am June 21st 2018 via Twitter Web Client
New Post: Dr. Anna Barker at #AACR18 Cancer biomarkers: Moving from promise to reality - Pillar Biosciences https://t.co/zo7lVOsLSf
2:10pm May 24th 2018 via Twitter Web Client
RT @AMPath: Great recap of the #AMPEurope2018 "Battle of the #Bioinformatics Pipelines" session with @Agilent, @QIAGEN and @thermofisher: h…
12:23pm May 3rd 2018 via Twitter Web Client
#ampeurope2018 Ferreira-Gonzalez: sharing benefits of AMP, new educational effort AMPED, and annual meeting in San… https://t.co/9JHemM7i2P
10:44am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Ferreira-Gonzalez: Poster awards: Astrid Eijkelenboom (Radboud NE), Sabah Kadri (Univ Chicago), Pragya Gupta (Kolkata India)
10:40am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Ferreira-Gonzalez: Young Investigator travel awards: Pragya Gupta (Kolkata India) Mariia Vykhrieva (Keiv Ukraine)
10:39am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Final thoughts from Andrea Ferreira-Gonzalez credits the @AMPath staff and leadership. Impact: conf… https://t.co/624zypsrhA
10:38am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: If we don't build a system to include variety, we run the risk of 'rich man's medicine'.
10:27am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Shared value ecosystem: serving multiple stakeholders https://t.co/F2dzIT19j4
10:24am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Connecting with patients: providing useful and actionable info for pts and their providers https://t.co/pbsqONV7Sy
10:20am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Pt enrichment for clinical trials - recent publ https://t.co/bDtaYNlOFJ
10:18am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: For a given individual going to a physician: included in a cohort that looks just like them.
10:14am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Data-sharing is collaboration: but an agreement that that is the goal. Then out to the point of care.
10:13am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: If you are sharing pt data, they need to know. Vision of breaking down silos; standard proto… https://t.co/HNKCeIkivs
10:12am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Uses Senteion, and DNANnexus. Data warehousing by cloudicity, and API by click.
10:11am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Started at HudsonAlpha, recently added TGEN for genetic sequencing, same SOPs, platforms, data handling
10:10am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Cancer registry, with classic demographics. Common data elements agreed-upon. Now almost 50K new pts/y
10:09am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Now WES at 300x; RNASeq 100M; Germline at 100x. Data comes back to the pt, and a federated data sharing
10:07am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Want to anticipate need for biomarker-driven clinical trials 'before they progress to create options'
10:06am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: 16K legacy pts w/ gene exp profiles; have started w/pts with greatest need.
10:05am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: A system of continuous learning and ability to anticipate need. In 12y: have legacy data w/microarray
10:03am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Power is cohort surveillance; virtual 'in silico communities'. Longitudinal clinical data
10:02am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: TCC protocol is same handling of tissue, clinical and molecular data. M2GEN facilitates the… https://t.co/fTn3ZdpYOz
10:01am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Focus on data utilization. Design approach to jobs to address. Many stakeholders.
#ampeurope2018 Dalton: Now 211K pts consented to-date. Lessons: need for scale, vol, velocity, variety, and veracity. Anticipate needs.
10:00am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Allow access to entire medical record following them for life, and permission to re-contact.
9:59am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: Dev. markers to predict need in order to prevent; pts consent to donate tissue for storage, future analysis...
9:58am May 2nd 2018 via Twitter Web Client
#ampeurope2018 Dalton: M2GEN founder. ORIEN now has 17 members. "Total Cancer Care". ID's needs of pt and families, evidence-based approach
9:57am May 2nd 2018 via Twitter Web Client
