Li: Level C: Off-label use Rx, clinical trial inclusion, multiple small studies support significance for Dx and Prognsois #AMP2016

7:33am November 12th 2016 via Twitter Web Client

Li: Level B, 'feel strongly', likely to move into A, well-powered studies, good consensus from experts #AMP2016

7:32am November 12th 2016 via Twitter Web Client

Li: D-level Rx plausible therapeutic significance; D-level Dx: may assist disease diagnosis, small studies, few case reports #AMP2016

7:31am November 12th 2016 via Twitter Web Client

Li: A-level Dx: biomarkers in prof. guidelines as Dx; A-level Prognosis: in guidelines as prognostic. #AMP2016

7:30am November 12th 2016 via Twitter Web Client

Li: Four levels of evidence (A-D), with Therapy, Diagnosis, and Prognosis parameters for each level. Rx: From FDA-approved markers #AMP2016

7:29am November 12th 2016 via Twitter Web Client

Li: Included ClinVar and CGC meetings to gather input over 18 mos. for evidence-based somatic categorization, reporting #AMP2016

7:27am November 12th 2016 via Twitter Web Client

Li: Surveys, publication review, category examples collected from AMP, created master var annotation, categorization, feedback #AMP2016

7:26am November 12th 2016 via Twitter Web Client

Li: AMP Interpretation of Sequence Variants working group (ISV), w/representation from AMP, ACMG, CAP, and ASCO #AMP2016

7:25am November 12th 2016 via Twitter Web Client

Marylin Li (CHOP PA): Standards and guidelines for the interpretation and reporting of sequence variants in cancer #AMP2016

7:23am November 12th 2016 via Twitter Web Client

Jennings: Clarify limitations in report. Manuscript reviews were favorable, concepts and rec's should serve as practical resource #AMP2016

7:22am November 12th 2016 via Twitter Web Client

Jennings: E.g. FLT3-ITD - you won't get 59 samples. Options to get orthogonal method until you get 59 w/NGS; or add control. #AMP2016

7:21am November 12th 2016 via Twitter Web Client

Jennings: Error-based approach, perf of similar variants will not be performing differently. Abbrev method validations poss #AMP2016

7:20am November 12th 2016 via Twitter Web Client

Jennings: Can be thru test design, method validation, or quality controls. Not novel, CLSI EP-23 and IQCP #AMP2016

7:19am November 12th 2016 via Twitter Web Client

Jennings: Assess possible sources of error at each step; provide documented evidence error would not occur, or detected #AMP2016

7:18am November 12th 2016 via Twitter Web Client

Jennings: Detecting BRAF V600E, need to detect 59 samples in a row correctly. What about other mutations and mut types? #AMP2016

7:18am November 12th 2016 via Twitter Web Client

Jennings: Shows table of 95% reliability, and confidence of 95%, n=58.4. NGS requires 'an error-based or method-based' #AMP2016

7:17am November 12th 2016 via Twitter Web Client

Jennings: 59 samples and assessing coverage - ave coverage is 98%; 95% CI is 97.9%-98.1%; lowest value is 97.1% #AMP2016

7:16am November 12th 2016 via Twitter Web Client

Jennings: The probabily that 1 sample >92% is 95% in a graph. For 59 samples: (0.95)^59 #AMP2016

7:15am November 12th 2016 via Twitter Web Client

Jennings: Tolerance interval if distribution is normal. For non-normal distribution, due to limits at 0% and 100% #AMP2016

7:14am November 12th 2016 via Twitter Web Client

Jennings: Tolerance interval - where 95% of samples will fall (the population distribution), a broader range. 'The next patient' #AMP2016

7:13am November 12th 2016 via Twitter Web Client

Jennings: Sample mean will equal population mean; even with 20 samples, can get 95% CI range can be calculated. #AMP2016

7:12am November 12th 2016 via Twitter Web Client

Jennings: Shows binomial distribution of read depth (if perfect), and what 20 sample points look like along that distribution #AMP2016

7:11am November 12th 2016 via Twitter Web Client

Jennings: Palmetto - 2; CAP - at least 20; NYSDOH - 50 pt samples for validation. Others - not specified. #AMP2016

7:10am November 12th 2016 via Twitter Web Client

Jennings: Manuscript written and submitted to JMD, so this is still draft. 'Current samples for NGS Validation' quiz... #AMP2016

7:09am November 12th 2016 via Twitter Web Client

Lawrence Jennings (Univ Chicago IL) Standards guidelines for development, optimization, and validation of NGS-based oncology panels #AMP2016

7:09am November 12th 2016 via Twitter Web Client

SeraCare Launches Two New Seraseq Reference Materials for Clinical Oncology Assays #AMP2016 https://t.co/rzmHmYZOX8

5:06pm November 11th 2016 via Hootsuite

Q: Best test for 1p/19q co-del? Aldape: FISH-based assay. If only 1 deleted: either both or none, via unbalanced transloc #AMP2016

1:37pm November 11th 2016 via Twitter Web Client

Q: Role for MGMT methylation status? Aldape: Routine predictive marker for chemo in GBM, impt for wt IDH #AMP2016

1:36pm November 11th 2016 via Twitter Web Client

Aldape: Retrospective cohort 558 lower-grade diffuse glioma (WHO II-III): 85 were IDH wt, shows clear diff by grade via K-M curve #AMP2016

1:31pm November 11th 2016 via Twitter Web Client

Aldape:IDH status and 1p/19q are now used to classify WHO diffuse astrocytic tumors, and oligodendroglial tumors #AMP2016

1:28pm November 11th 2016 via Twitter Web Client

Aldape: Has able to dev a classifier using methylation status, and applied it for GBM. Able to get WHO 'blue book' changed #AMP2016

1:26pm November 11th 2016 via Twitter Web Client

Aldape: Methylation status is stable in tumors; can use ILMN Methyl array, showed data across 50 types of brain tumors #AMP2016

1:22pm November 11th 2016 via Twitter Web Client

Aldape: Shows K-M curves where molecular characterization of IDH wild-type into two sub-groups #AMP2016

1:21pm November 11th 2016 via Twitter Web Client

Aldape: Integrated analysis of CNV, methylation, RNA, microRNA, 2nd-order clustering #AMP2016

1:15pm November 11th 2016 via Twitter Web Client

Aldape: #AMP2016 '15 NEJM https://t.co/R3tgqg98kR via #TCGA further refined model of Diffuse Grade II/III

1:12pm November 11th 2016 via Twitter Web Client

Aldape: IDH1 and change in methylation '12 ref https://t.co/GLD5uJ3MLU Old model '06: 1p/19q co-deletion vs TP53 mut; now IDH, CIMP #AMP2016

1:10pm November 11th 2016 via Twitter Web Client

Aldape: Starts with its GBM's vague classification, and fortunate discovery by Parsons '08 https://t.co/rr8HZY1FnL and IDH #AMP2016

1:08pm November 11th 2016 via Twitter Web Client

Kenneth Aldape (Univ Health Network Toronto CN) Molecular Classification of Glioblastoma and the Implementation for Therapy #AMP2016

1:06pm November 11th 2016 via Twitter Web Client

Immunotherapy moves to the front lines in fight against lung cancer - The Washington Post https://t.co/W7o2ow1mC8

11:20am November 11th 2016 via Hootsuite

Interesting: @dna_electronics presents "G-BSI Blood-to-Result Test" ID67 from 9.45 - 10.45am tomorrow https://t.co/8HRryKfrTh #AMP2016

10:30am November 11th 2016 via Hootsuite

LiPuma: Diversity increases, as disease progresses diversity declines, explaining overlap of microbial communities #AMP2016

9:34am November 11th 2016 via Twitter Web Client

LiPuma: #AMP2016 '16 ref https://t.co/E1sZOVumje shows a sig underrepresentation of spp. by traditional culture methods

9:30am November 11th 2016 via Twitter Web Client

LiPuma: #AMP2016 '12 PNAS https://t.co/0L6IYQXtvA shows diversity over 8.6y in CF

9:28am November 11th 2016 via Twitter Web Client

LiPuma: Culture-indep profiling by 16S described in '03 https://t.co/TISSY8qBn9 now by NGS. Defines diversity, other terms #AMP2016

9:26am November 11th 2016 via Twitter Web Client

LiPuma: '91 review reflected thinking, P. aeruginosa on top of epithelial cell complex https://t.co/0ZazxC8YwG 30y of work #AMP2016

9:23am November 11th 2016 via Twitter Web Client

LiPuma: Outlines conventional approach to Koch's postulates, for bacterial pathogenesis, virulence. https://t.co/hIQGTI268W #AMP2016

9:21am November 11th 2016 via Twitter Web Client

LiPuma: Median CF survival now to late 20's. Predicted survival - mid 30's. #AMP2016

9:19am November 11th 2016 via Twitter Web Client

LiPuma: #AMP2016 CF progress tracked in '70 ref: https://t.co/bAhCR1HzKl Shows 'downward spiral' - obstruction, insuff, resp failure

9:18am November 11th 2016 via Twitter Web Client

LiPuma: #AMP2016 Sant'Agnese in '46 https://t.co/Yg0FMAqZnE started blowing Penicillin in lungs '57 and increase in survival

9:16am November 11th 2016 via Twitter Web Client

LiPuma: '42 penicillin available; respiratory tract Staph infection. '46 ref - ages of children who died of CF, all Staph aureus #AMP2016

9:14am November 11th 2016 via Twitter Web Client