Ryan J Taft

Dad, husband, scientist. Focused on genomics, rare disease and the future of medicine. Opinions and tweets are my own.

[Ryan J Taft @ryanjtaft]

In a little more than a week I'll be participating in the National Academies’ Roundtable on Genomics and Precision Health workshop on next-generation newborn screening, examining the use of DNA sequencing as a supplement to traditional newborn screening.…https://t.co/sTohCj5nhT

[Ryan J Taft @ryanjtaft]

The biggest challenge in rare genetic disease diagnostics isn't generating the sequencing data, it's interpretation. This paper from Emedgene, an Illumina Company and Baylor Genetics shows that AI can prioritize the vast majority o…https://t.co/AFJdKnOVUd https://t.co/f28t3Yx3KL

[Ryan J Taft @ryanjtaft]

Today we announced a partnership with Henry Ford Health, a national leader in the study of racial and ethnic disparities in health care, that gets us even closer to #genomesforeveryone. With HFH we will investigate the potential of…https://t.co/krjRnz9EUx https://t.co/FlFJZRfc6F

[Ryan J Taft @ryanjtaft]

The launch of this program means answers for many more patients! Illumina will donate $120M in-kind over five years. Labs across the globe will be directly supported to provide WGS to patients in need. This is big.

[Illumina @illumina]

Our new iHope™ Genetic Health program will expand access to whole genome sequencing to low- & middle-income communities globally, with more than 1/3 of funds allocated to patients in Africa. More about our partnership: https://t.co/d58QCCblYS @GeneticAlliance #iHope #Genomics

[Sharon vidal @Envirosharon]

There are simply not enough synonyms for "proud" to convey the impact this will bring to the world. Thank you to @illumina Leadership for supporting this and a special thank you to @ryanjtaft for the vision to get us here.

[Ryan J Taft @ryanjtaft]

Agree Kristen!

[Eric Topol @EricTopol]

Just published @ScienceMagazine
A gene variant in the interferon pathway, our innate immunity, is associated with protection from severe Covid, missing in horseshoe bats, and has marked global variability with high prevalence in Africa
https://t.co/cmsfEBBkzy
@virologist_atu

[Ryan J Taft @ryanjtaft]

Neonates w suspected genetic disease in the ICU: 2x more get a dx and precision care with WGS. Our findings out this week in @JAMAPediatrics. https://t.co/ELDIJDskFl
@RadyGenomics @ChildrensPhila @unmc @ChildrensOmaha @chocchildrens @STLChildrens @LeBonheurChild

[Heidi Rehm @HeidiRehm]

We are thrilled to launch the Gene Curation Coalition (GenCC) Database. GenCC brings together 11 groups curating gene-disease validity and integrates their results into a common database - kind of like a ‘ClinVar for genes’! Start searching here https://t.co/9gST9N7jmy! (1/4)

[Ryan J Taft @ryanjtaft]

I am proud and excited about the release of the TruSight Software Suite. Built with the potential of whole genome sequencing in mind from the start, it will enable labs to interrogate everything from a copy number variant to a repeat expansion. More diagnoses for more patients!

[Illumina @illumina]

TruSight Software Suite will set the standard for scalable and swift interpretation of genomic information, enabling whole-genome sequencing to become the standard of care in rare diseases.

https://t.co/LTfZNM9Zdz

[National Human Genome Research Institute @genome_gov]

David Bentley is the chief scientist at @illumina, where he develops new DNA sequencing technologies for faster and more accurate sequencing of complex genomes. In this week’s #HGPCountdown, watch him discuss working on the first phase of the International HapMap Project.

[Ryan J Taft @ryanjtaft]

Incredibly pleased to be part of a group that is tackling best practices in the delivery of clinical whole genome sequencing. This is an important step in making genomes available to every patient that needs one.

[Medical Genome Initiative @medical_genome]

We are pleased to announce our inaugural publication in @GenomeMedicine!

This publication highlights our aims of expanding access to WGS for rare disease through the development of laboratory & clinical best practices & clinical research frameworks. https://t.co/6nAWN9L6y5

[Mike Clark @ClarksysCorner]

A great piece of scientific detective work. Congrats to Cas Simons and the team @MCRI_for_kids @ghelman91 @Mitochondriac_ and colabs. Pleased we could help out with some @nanopore sequencing.

[Illumina @illumina]

Article today in @NatGeo on tracking #coronavirus spread using genetic mutations. @PhilFebboMD_CMO: “In the future, sequencing will become an even more important tool to identify local or regional viral flare-ups before they spread." https://t.co/9GttV9t4Rs

[Leah Kaminsky @leahkam]

I am going to work as a GP every day and risking my own and my family's health to help others stay safe, with dwindling protective equipment...and Australia is letting this happen right now?? #manslaughter @AusBorderForce @normanswan @LaTrioli @RACGP @ScottMorrisonMP #COVIDIOT

[John Bachman @johnabachman]

#covidpathways biocurators: a few of us have started a GitHub organization (https://t.co/4uyslUZRe9) to track/organize parallel efforts at gathering and curating information about #covid19 interactions and disease mechanisms. Add your info: https://t.co/Ls9XIhLYwV

[Eric Topol @EricTopol]

The US will reach 100,000 #COVID19 cases & > 900 deaths by Friday, March 27, w/ doubling rates of 2.4 & 3.5 d, respectively. -> #1 in the world.
Recall that South Korea & US had their 1st patient diagnosed on Jan 21/22 (within 24 hrs). The Δ for SK vs US was testing + tracing

[Faheem Younus, MD @FaheemYounus]

Watch this video.

From 15% - 50% people with COVID may remain asymptomatic.

That’s why we need:

- Mass testing
- Quarantining
- Hand washing
- School closures
- Social distancing
- Planning, not panicking

[Fiona Nielsen @glyn_dk]

Here is one for the history books #COVID19