Flatley: 2 modules library prep feeding multiple sequencers. 1G/run, 4M reads, $100/sample, $30K for both modules #AGBT16

9:22am February 12th 2016 via Hootsuite

Flatley: Second cartridge does clustering, PE steps, 3.5h to 13h run-times. Driven off wireless iPad #AGBT16

9:22am February 12th 2016 via Hootsuite

Flatley: 9 sample system, 3.5h lib prep unattended. Electrode pads in disposable cart (is this Adv Liq Logic tech?) #AGBT16

9:21am February 12th 2016 via Hootsuite

Flatley: Product not until H2 '17. Low cost, reliable, ease of use, customer self-installation! <1 cubic foot in size #AGBT16

9:20am February 12th 2016 via Hootsuite

RT @PaulFlicek: Solexa branded notebook from AGBT 2006. #AGBT16 https://t.co/PLDybAkOxu

9:19am February 12th 2016 via Hootsuite

Flatley: Showed scatter-plot, showing read accuracy about 99%, 2x100bp runs #AGBT16

9:19am February 12th 2016 via Hootsuite

Flatley: Incorporates A, T labled and detected. A removed, C attached. T and C are labeled, read. Now all can be deconvoluted #AGBT16

9:19am February 12th 2016 via Hootsuite

Flatley:Single-dye - one-channel chem. G id starg, C tagged, A removable dye, T 'standard' #AGBT16

9:18am February 12th 2016 via Hootsuite

Flatley: DNA deposition aligns 1:1 over every pixel - borrowed from patterned flowcells. Structural design to elim cross-talk #AGBT16

9:18am February 12th 2016 via Hootsuite

Flatley: Showed CMOS firefly chip - one-color detection. Nanowells, surace layer compat for SBS. Excitation light block 1000x better #AGBT16

9:17am February 12th 2016 via Hootsuite

Flatley: Two directions - MiSeq with LED optics. Onto Avantome and CMOS sequencing potential in Firefly #AGBT16 https://t.co/TFUgHyg7EI

9:16am February 12th 2016 via Hootsuite

Flatley: Showed a number of stats. Moving along - he was an early buyer of an Apple LISA - 'not a good implementation' #AGBT16

9:14am February 12th 2016 via Hootsuite

Flatley: Techn involved: nanofabrication, optics, surface chem, informatics, dye chemistry, enzymology, fluidics, camera/sensors #AGBT16

9:09am February 12th 2016 via Hootsuite

Flatley RT @claritas4kids: #AGBT16 JF: current tools inadequate, will need deep learning tools to extract value

9:08am February 12th 2016 via Hootsuite

Flatley: First SBS - was Keji Zhao, in 6mos. Artem Barski first author. #AGBT16 '08 Cell https://t.co/rH8XWZfRDZ (BTW - my first customer)

9:06am February 12th 2016 via Hootsuite

Flatley: 40 people when they went public, now 5K (BTW @daleyuzuki was about employee 100) #AGBT16

9:04am February 12th 2016 via Hootsuite

Jay Flatley (Illumina) Beyond the $1000 Genome-What’s next for NGS? #AGBT16

9:03am February 12th 2016 via Hootsuite

Great to meet @mattloose here at #AGBT16 breakfast! Great stuff he’s working on.

9:02am February 12th 2016 via Hootsuite

New post: Circulating Tumor DNA Poster presented at Keystone Symposium | SeraCare Blog https://t.co/6AMm8j2aQc #AGBT16

6:45am February 12th 2016 via Hootsuite

A cancer’s surprise origins, caught in action | Harvard Gazette https://t.co/Ph4qfpHm91

6:05am February 12th 2016 via Hootsuite

The Tragedy of the Woolly Mammoth: Does An Economic Problem Explain Their Extinction? - Pacific Standard https://t.co/iTDxL28xwn

5:40am February 12th 2016 via Hootsuite

Invitae's Q4 Revenues Increase More Than Three Fold | GenomeWeb https://t.co/VXimmKCa8r

4:15am February 12th 2016 via Hootsuite

Huang:Q:Why only 2x needed? A:Enriched the target region has reprod higher coverage regions adjacent regions #AGBT16

9:29pm February 11th 2016 via Hootsuite

Huang: Acknowledges Sunney Xie now at Peking Univ #AGBT16

9:28pm February 11th 2016 via Hootsuite

Huang: Only need 2x WGS coverage for MALBAC makes this cost-effective, free from parent's monogenic disease #AGBT16

9:27pm February 11th 2016 via Hootsuite

Huang: Five embryos, one diploid polar body had homozygous deleterious mutation. 3/5 were unaffected. 2nd healthy delivery '14 #AGBT16

9:26pm February 11th 2016 via Hootsuite

Huang: Case 2, XLHED, X-linked hypohidrotic ectodermal dysplasia, no hair or teeth #AGBT16

9:25pm February 11th 2016 via Hootsuite

Huang: Summary of 18 embryos - 7 unaffected, showed first healthy delivery in late '14. #AGBT16

9:23pm February 11th 2016 via Hootsuite

RT @mason_lab: #AGBT16 The 20kb Oxford nanopore prep needs ~15ug of DNA due to serial loss during library prep. Good news for @10xgenomics

9:22pm February 11th 2016 via Hootsuite

Huang: '15 PNAS https://t.co/3gn8DmVTFR by combining MALBAC with linkage method called MARSALA #AGBT16

9:20pm February 11th 2016 via Hootsuite

Huang: They reviewed 5 methods of WGA here https://t.co/NVoVD7t6Rz Developed linkage analysis #AGBT16

9:19pm February 11th 2016 via Hootsuite

Huang: Use MALBAC '12 Science https://t.co/uH74HxEpMN For SNVs easy to get allele dropout or amplifcation error #AGBT16

9:18pm February 11th 2016 via Hootsuite

Huang: PGD/PGS - via polar body biopsy day 0, also blastocyst biopsy at day 5 #AGBT16

9:16pm February 11th 2016 via Hootsuite

Huang: Rises w/age of female to 70% aneuploidy rate, 50% miscarriage rate by 44yo. #AGBT16

9:15pm February 11th 2016 via Hootsuite

Huang: New method prevents both monogenic diseases and aneuploidy. Seq of polar bodies '13 Cell ref https://t.co/NnJRrXS3vY #AGBT16

9:14pm February 11th 2016 via Hootsuite

Lei Huang (Peking Univ) Live Births with monogenic diseases and chromosome abnormality simultaneously avoided by NGS-based PGD/PGS #AGBT16

9:12pm February 11th 2016 via Hootsuite

Bainbridge:Q:Adding algorithms? A:They can determine if one or the other is useful. #AGBT16

9:12pm February 11th 2016 via Hootsuite

Bainbridge:Q:How to deal with updates? A:No official policy, but can update and move report forward or back in time #AGBT16

9:09pm February 11th 2016 via Hootsuite

Bainbridge: And these apps will have an automated pipeline behind it. Worked closely with DNANexus #AGBT16

9:08pm February 11th 2016 via Hootsuite

Bainbridge: expects a 'burst of recreational DTC WES companies' with inexpensive sequencing, and sell apps on top of that #AGBT16

9:07pm February 11th 2016 via Hootsuite

Bainbridge: Discusses their efforts beyond precuration: ensemble approach for variant effect. Showed tunable spec/sens for panel #AGBT16

9:07pm February 11th 2016 via Hootsuite

Bainbridge: Var db based on Hadoop, uses Hive uses SQL and transl to noSQL. Two portals - controlled for external vs internal #AGBT16

9:01pm February 11th 2016 via Hootsuite

Bainbridge:QA/QC critical; sample prep, var validation, sequencing. Heart of system is variant warehouse; limited annotation #AGBT16

9:00pm February 11th 2016 via Hootsuite

Bainbridge: LIMS is basically a Oracle Java/JS web-services oriented. Sample tracking, batch reagent failures #AGBT16

8:59pm February 11th 2016 via Hootsuite

Bainbridge:Fast, reliable, accurate. SNV, CNVs, SNP-arrays, automated QC/QA, automated reporting, new variants #AGBT16

8:57pm February 11th 2016 via Hootsuite

Bainbridge: Correction: 25K was eMERGE, Carrier testing at 1K-4K samples/month #AGBT16

8:56pm February 11th 2016 via Hootsuite

Bainbridge:Automated methods balance sensitivity, specificity. Baylor/Miraca wants to handle 4K samples/mo. SFARI 25K in 4y #AGBT16

8:56pm February 11th 2016 via Hootsuite

Bainbridge: Thought in 2011 that WES would spell the death of panels. But they have proliferated - shorter TAT, lower cost, analysis #AGBT16

8:55pm February 11th 2016 via Hootsuite

Matthew Bainbridge (Baylor) Neptune: an automated pipeline for clinical reporting of carrier-tests #AGBT16

8:54pm February 11th 2016 via Hootsuite

Moore: Another example - current biopsy can be 'substantially different than the primary'. Need to treat metastatic disease #AGBT16

8:48pm February 11th 2016 via Hootsuite