Bresler #NGDx18 Example: Cytyc ThinPrep kits for getting a uniform layer of cells for Pap smears w/an imager. Walks… https://t.co/fosgfKDCJY
2:50pm August 20th 2018 via Twitter Web Client
Bresler #NGDx18 For medical devices, it's different. Considering 'the chain of value propositions'; what are needs of all stakeholders?
2:47pm August 20th 2018 via Twitter Web Client
Bresler #NGDx18 An integrated dev process for human centric design: user research, concept dev, concept execution, testing/eval.
2:45pm August 20th 2018 via Twitter Web Client
Herbert Bresler (Battelle) NGDx18 Human centric design considerations for developing POC diagnostics
2:44pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 Have established a clonal hematopoiesis clinic to help these pts. Future prospects: liquid biopsy, more comprehensive RNA/DNA
2:36pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 They sequence not only tumor but matched normals; can look at ca predisposition. Can look at clonal… https://t.co/NmazI1BDL8
2:35pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 Re-diagnosis of br cancer 5y later, metastatic spread to lymph. Found: 96% probability of lung cance… https://t.co/t3tyArYQZo
2:33pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 Inferring tissue of origin: a machine-learning classifier. When they aggregate features (hotspots, f… https://t.co/PNR13Fh3zJ
2:31pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 Found Whole Genome Doubling - about 30% of cases, assoc'd with poor prognosis. '18 https://t.co/n4IFXTkOCa
2:30pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 MMR approved May '17; MSI-H or MMR-d solid tumors approved for PD-1 blockade. Their study on MSI: detected.
2:29pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 But still tricky: low TMB may respond, others with high TMB and don't. Other signatures - smoking, MMR, APOBEC etc useful.
2:27pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 Higher TMB, better I-O response. Nivo plus ipi (CheckMate 012); general concordance between their IMPACT and WES
2:26pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 ID more complex, clinically-meaningful genomic features. TMB: across and within cancer types, sig variation.
2:25pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 12% of pts were enrolled on an MSK trial based on a target aberration. High compared to similar init… https://t.co/0eWDP3MYLM
2:24pm August 20th 2018 via Twitter Web Client
Berger #NGDx18 % of pts bar chart - still many tumor types (renal, mesothelioma) where few options available.
2:21pm August 20th 2018 via Twitter Web Client
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
Lek: #NGDx18 Mokol did his post-doc at Broad, last year has been at Yale increasing Dx yield for rare neuro disease.
1:40pm August 20th 2018 via Hootsuite Inc.
Lek: #NGDx18 Intro remarks on speaker lineup - MSKCC for clinical decision support in oncology, UPMC for Cloud WGS… https://t.co/IYlMkKt7av
Lek: #NGDx18 Beyond sequencing: functional genomics, machine learning, and adv analytics
1:36pm August 20th 2018 via Hootsuite Inc.
Here at #NGDx18 https://t.co/hAp6T8nVdO and will be live-tweeting; first up Mokol Lek (Yale SOM) NGS Data Analysis for Inh Disease.
1:34pm August 20th 2018 via Hootsuite Inc.
MT @BluebeeGenomics: Naomi Thomson, Bluebee’s Dir of Biz Dev, is off to #NGDx18. DM or email info@bluebee.com to ar… https://t.co/fyaX2NXAbK
1:31pm August 20th 2018 via Hootsuite Inc.
https://t.co/kcnCjW5IHz Check out their interesting tech if you attend #NGDx18 - and look for @Pillar_Bio too!
1:22pm August 20th 2018 via Hootsuite Inc.
Review of sequencing technologies by generation and instruments https://t.co/ccy6sCEC9p
11:44am August 18th 2018 via Hootsuite Inc.
From Juggling to Biomechanics – NIH Director's Blog https://t.co/D1ZUr1bRrn
11:01am August 14th 2018 via Hootsuite Inc.
Large-Scale Proteomic Analysis Indicates Potential of Circulating Proteome for Biomarker Work | GenomeWeb https://t.co/vU6tOT2bUE
8:41am August 14th 2018 via Hootsuite Inc.
Study finds Tdap vaccination for pregnant women does not increase risk of autism | EurekAlert! Science News https://t.co/bzZda5PFY3
9:45am August 13th 2018 via Hootsuite Inc.
Cancer: one in four too scared to seek medical help over symptoms | MSN https://t.co/f1UTCZbGI9
7:25am August 13th 2018 via Hootsuite Inc.
DNA ancestry tests may look cheap. But your data is the price | The Guardian https://t.co/1YVkApRDVh
6:40am August 13th 2018 via Hootsuite Inc.
Estimation of the Percentage of US Patients With Cancer Who Benefit From Genome-Driven Oncology | Oncology | JAMA O… https://t.co/MheO0Furjz
7:10am August 10th 2018 via Hootsuite Inc.
Geisinger Team Describes Approach for Returning Secondary Genomic Findings to Research Participants | GenomeWeb https://t.co/Eh5hdAJTur
4:30pm August 9th 2018 via Hootsuite Inc.
