sequin @sequ_in

Synthetic RNA/DNA standards for better genome sequencing. sequinstandards.com CDMX Joined October 2015

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Genome in a Bottle @GenomeInABottle

4 years ago

Nice @JAMA_current high-level summary of advances in technology & benchmarking that enable accurate clinical sequencing in many genomic regions and sources of remaining bias by @GoogleAI's Ryan Poplin @MarkDePristo @NIST's Justin Zook jamanetwork.com/journals/jama/… 1/n

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Genome in a Bottle @GenomeInABottle

5 years ago

1/n We are excited to make this preprint available about our new small variant benchmarks for the @PGorg Ashkenazi trio (@NIST RM 8392), enabling benchmarking in many difficult-to-map regions, segmental duplications, and genes with pseudogenes or highly homologous genes.

bioRxiv Genomics @biorxiv_genomic

5 years ago

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Martin Smith @martinalexsmith

5 years ago

Single molecule spike-in control for NGS studies that can be equivalently and independently synthesized by individual laboratories to provide a common metric by which genomes can be measured. nature.com/articles/s4146… @sequ_in

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sequin @sequ_in

5 years ago

Please note that due to COVID-19 restrictions, we are currently experiencing delays for the (cryogenic) shipment of RNA sequins.

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sequin @sequ_in

5 years ago

New synthetic DNA ladders for measuring quantitative features in NGS libraries - now shipping within all Human genome and metagenome sequin mixtures protect-au.mimecast.com/s/yM1sCOMK24u6…

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Ross Cloney @rosscloney

5 years ago

.@sequ_in and @GarvanInstitute give us a universal and independent synthetic DNA ladder for measuring genomic features go.nature.com/2Bce1aA

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Nature Methods @naturemethods

5 years ago

Primer detectives: labs in academia and at companies talk about methods issues--and hurdles--behind #coronavirus testing. Story by @metricausa. bit.ly/primer_detecti…

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Keith Robison @OmicsOmicsBlog

6 years ago

For other molecular geeks, Abbott (ex-Alere) rapid test uses isothermal Nicking Enzyme Amplification Reaction (NEAR) - nickase+strand displacing polymerase that has reverse transcriptase activity tandfonline.com/doi/full/10.10…

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ARTIC Network @NetworkArtic

6 years ago

We are (finally!) releasing V3 of our amplicon protocol today for hCoV-2019, which fixes a few remaining issues with amplicon dropouts. Please head over to our new forum for further details: community.artic.network/t/hcov-2019-ve… PDF version: artic.network/resources/ncov…

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Genome in a Bottle @GenomeInABottle

6 years ago

Want to see how good your variant calls are in a variety of repetitive genome contexts in GRCh37 and GRCh38? We just released v2.0 of the stratification bed files from @GA4GH & @GenomeInABottle at github.com/genome-in-a-bo… and follow best practices in rdcu.be/bue67

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David B. Solit, MD @DSolit

6 years ago

The prospective clinical MSKCC NGS cohort is now >50,000 samples sequenced. Thanks to the hundreds of physicians, laboratory technicians, data scientists, nurses and support staff @sloan_kettering who have made this initiative possible. A few thoughts on what we have learned.

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Eric Topol @EricTopol

6 years ago

The importance of reproducibility and replication for #AI models in #healthcare, and the under-appreciated barriers for this to be achieved jamanetwork.com/journals/jama/… @JAMA_current by @AndrewLBeam @arjunmanrai and @MarzyehGhassemi @HarvardDBMI @UofTCompSci @Bos_CHIP @VectorInst

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Nature Protocols @NatureProtocols

6 years ago

#FreeAccessProtocol this week: Using sequins, synthetic DNA spike-in controls, to improve the accuracy of human genome sequencing. go.nature.com/2KAuN6j @GarvanInstitute @sequ_in