Solomon: ~5% live-born infants, ~8% by age 25% have genetic conditions. #ASHG15 '88 ref: http://t.co/DLouDSvl0J
1:31pm October 7th 2015 via Hootsuite
Solomon: ~5% live-born infants, ~8% by age 25% have genetic conditions. '88 ref: http://t.co/uQ3Cf29a3X Pie-chart of congenital #ASHG15
1:30pm October 7th 2015 via Hootsuite
Solomon: PCA plot of 650 parents showing diversity. Congenital disorders - 2012; 2-3 families/week, early in NICU, before odyssey #ASHG15
1:27pm October 7th 2015 via Hootsuite
Solomon: Blood, urine, saliva.. 2500 families now; goal is 5K. Want to expand to other locales. 104 countries of birth #ASHG15
1:26pm October 7th 2015 via Hootsuite
Solomon: About 1/3 is longitudinal; research nurses are embedded; insured and under-insured; high and nomal-risk. >18y timeframe. #ASHG15
1:25pm October 7th 2015 via Hootsuite
Solomon: Trio-based WGS; other 'omics (expression, methylation, miRNA, EHR, surveys longitudinal. #ASHG15 '14 ref: http://t.co/tE6L5OKaaz
1:24pm October 7th 2015 via Hootsuite
Solomon: ITMI founded by John Niederhuber, former head of NCI. INOVA center for Personalized Health new campus announced #ASHG15
1:22pm October 7th 2015 via Hootsuite
Solomon: INOVA has 2M pt visits/y; 6 hospitals; 1k-beds including children's; 10K deliveries/y. Transl Center started '10 #ASHG15
1:21pm October 7th 2015 via Hootsuite
Ben Solomon (INOVA) "Solving diagnostic odysseys in the neonatal intensive care unit" @ING_SYS workshop #ASHG15
1:20pm October 7th 2015 via Hootsuite
120K squences, 14K WGS, >100 countries. http://t.co/SM2KBgd9bE Also HGMD: 120K disease-causing mutations #ASHG15
1:16pm October 7th 2015 via Hootsuite
QIAGEN has Inova's WG Compendium - 7K broadly-consented WGS, will hear more from Ben Solomon shortly. Also Allele Freq Community #ASHG15
1:14pm October 7th 2015 via Hootsuite
Here at QIAGEN's @ING_SYS workshop: >400K samples analyzed; 'content-aware analytics' #ASHG15
1:13pm October 7th 2015 via Hootsuite
Starita: BRCA testing at lower cost means more testing; but 41.7% tests have a VUS in at least one gene http://t.co/zlNvdTWdE8 #ASHG15
10:06am October 7th 2015 via Hootsuite
Starita: Developed an HDR rescue assay in HeLa; made benign, pathogenic vars and HDR reporter results reported #ASHG15
10:05am October 7th 2015 via Hootsuite
Starita: Statistical model of Align-GVDR with HDR predictions for clinical BRCA1 var's; found benign and pahtogenic #ASHG15
10:01am October 7th 2015 via Hootsuite
Starita: But is it pathogenic? '10 ref: http://t.co/j7spSg7PC1 re: HDR function of BRCA1 #ASHG15
10:00am October 7th 2015 via Hootsuite
Starita:102 aa, by E3 fn score shown. Also ID's BARD1-binding activity. Recent publication: http://t.co/1jgUVgYZ8M #ASHG15
9:58am October 7th 2015 via Hootsuite
Starita: Flag-tagged Ub, ligase Ub's itself; can capture and elute 5x's. Then sequence looking for WT/subst aa #ASHG15
9:57am October 7th 2015 via Hootsuite
Starita: An active ubiquitin ligase. Tumor supp - not poss in humans. Ring domain binds to BARD1. E3 ligase fn of RING3 #ASHG15
9:56am October 7th 2015 via Hootsuite
Starita: Est relative effect size of different variant. Used with ring domain of BRCA1. BRCA is req'd for homology-directed DNA rpr #ASHG15
9:55am October 7th 2015 via Hootsuite
Starita: Generate library; do a multiplexed fn assay; before/after competitive growth assay. Count each allele #ASHG15
9:54am October 7th 2015 via Hootsuite
Starita: Functional analyses or computational prediction may not have validity or throughput. So: parallel functional assays #ASHG15
9:53am October 7th 2015 via Hootsuite
Starita: Missense SNVs are accumulating rapidly; VUS in BRCA1; in 1.5M, unable to interpret. 350 VUS reported in BRCA1 #ASHG15
9:52am October 7th 2015 via Hootsuite
Lea Starita (Univ WA) Massively parallel experimental analysis of missense mutations in BRCA1 for interpreting clinical VUS #ASHG15
9:51am October 7th 2015 via Hootsuite
Gunter: 3200 abstracts submitted this year. Acknowledgement to the committee and staff of #ASHG15
9:50am October 7th 2015 via Hootsuite
Barton: There are experts on genes, and their expertise needs to be not ignored. Veltmann: We need to continue bridge-building #ASHG15
9:45am October 7th 2015 via Hootsuite
Patsalis: More conservative in EU, important role of societies to affect political regulation. We need to be proactive as scientists #ASHG15
9:44am October 7th 2015 via Hootsuite
Chung: This is an exciting time, hoping regulations do not stifle innovation. Mansfield: actively working and engaged w/community #ASHG15
9:43am October 7th 2015 via Hootsuite
A2: Mansfield: Progress has been made, standards are needed, analytical validation #ASHG15
9:42am October 7th 2015 via Hootsuite
Q: (Vanderbilt) "27% of var's haven't been verified" How to clear it up? A:Gunter - from '11 paper. Chung: Aggregation, ongoing #ASHG15
Q: (Takeda) Double-coding for pt privacy? A: Barton: Under EU data privacy, sep from IVD; EU states US proviso insufficient #ASHG15
9:41am October 7th 2015 via Hootsuite
Q: @thatdnaguy (WashU) Who on panel has had WES? A: Chung: Non-trivial, has changed over time. She can appreciate it; moving target #ASHG15
9:38am October 7th 2015 via Hootsuite
A2: Chung: More hopeful on education; web-based resources on need-to-know for both providers and patients #ASHG15
9:37am October 7th 2015 via Hootsuite
Q: (NIH) How can clinicians be trained on genetic testing? Interpretation? A: Chung: Much people need to know (but don't) #ASHG15
9:36am October 7th 2015 via Hootsuite
A3: Chung con't: from the patient's point of view, the lines between research and clinical are blurred, with clinical WES #ASHG15
9:34am October 7th 2015 via Hootsuite
A2: Barton: Going from targeted for indiv., to WES as a research exercise Chung: WES often gets returned, CSER under research #ASHG15
9:33am October 7th 2015 via Hootsuite
A: Mansfield: FDA looks at research, investigational, and IVD as separate areas. #ASHG15
9:32am October 7th 2015 via Hootsuite
Q: (Munich DE) VUS not the biggest problem; it is 'research vs diagnostics'. When to use what kind of analysis #ASHG15
9:30am October 7th 2015 via Hootsuite
Q: (Rockefeller) Human Variome project? A:Mansfield: FDA isn't going to establish any db's; will rely on existing ones #ASHG15
9:29am October 7th 2015 via Hootsuite
Barton: So many variants 'we don't know' what it means #ASHG15
9:27am October 7th 2015 via Hootsuite
Chung: We clearly do not understand variant effect with non-EU populations. #PMINetwork will help, more data needed on other pop's #ASHG15
9:24am October 7th 2015 via Hootsuite
Chung: Both gene and variant-level interpretation with ACMG; 'we're clearly not there with var interpretation' #ASHG15
9:23am October 7th 2015 via Hootsuite
RT @mwilsonsayres: Audience comment: People are blissfully unaware of ExAC browser. Don't let that be you! http://t.co/BSYv6lG5Cn #ASHG15
9:22am October 7th 2015 via Hootsuite
Comment: China has adapted clinical appl. quickly, would hope future panels will represent Asia-Pacific as well. #ASHG15
Q: Prescreening for clinical trials? A: Mansfield: May be a drug-maker's nightmare. Start w/a conversation rather than a commitment #ASHG15
9:20am October 7th 2015 via Hootsuite
Q: What is state of 23andMe now? A: Mansfield:Given OK for Bloom's syndrome, and non-medical interpretation, genetic data generation #ASHG15
9:18am October 7th 2015 via Hootsuite
A4:Barton: EQA is needed, participating in proficiency testing #ASHG15
9:17am October 7th 2015 via Hootsuite
A3: Mansfield: 'Compelling people' to deposit data intriguing; both positive and negative data needed. #ASHG15
9:16am October 7th 2015 via Hootsuite
A2: Chung: A clear need, why ClinVar was initiated; would advocate errors get back to patients (over-interpreted) #ASHG15
9:15am October 7th 2015 via Hootsuite
Q: (Strausbourg FR) Pathogenic quality of interpretation of data? A: Patsalis Pre-market eval needed (validation) #ASHG15
9:14am October 7th 2015 via Hootsuite
