jameslu

Co-founder at @my_helix #DNAdiscovery

[Helix @my_helix]

New COVID-19 preprint by Helix shows Delta and Gamma displacing Alpha in the US.

Data from our viral surveillance and testing predict Delta will be dominant in a few weeks; early evidence shows growth is faster in counties with lower vaccination rates compared to gamma.

[Eric Topol @EricTopol]

Where is Delta (B.1.627.1) rapidly taking off in the United States?
You get one guess
https://t.co/ePOTk3ZWUR

[jameslu @jameslu20]

@my_helix @illumina @CDCgov A pleasure to collaborate with @dmaccannell and @PhilFebboMD_CMO.

[jameslu @jameslu20]

@my_helix @illumina @CDCgov This now includes the new emergence in GA and additional cases in CA

[jameslu @jameslu20]

@geunsmeyer @my_helix @CDCgov @illumina Yes.

[jameslu @jameslu20]

@my_helix @CDCgov @illumina About 50000 sequences done, but if we wanted to sample at a 5% rate, similar to UK rate of 7% we’d be doing 10,000 a day

[jameslu @jameslu20]

Growth in S gene drop-out; now representing 1.85% of positive cases in MA.

[jameslu @jameslu20]

Rapid work by the research team; clear need for viral surveillance to track mutations. Using the same methods as in the UK to track the H69/V79 mutation, we find the same pattern in the US, with a small but increasing trend since mid October

[Alexandre Bolze @alexbolze]

A thread on S gene drop out patterns in SARS-CoV-2 tests done at @my_helix .

Summary:
- we observe S gene drop out since mid October in US. Up to 0.5% last week.
- more sequencing of the virus is needed in the US.

https://t.co/sDY4fKMKvD

[jameslu @jameslu20]

Was great to work with the @HealthyNV team on our new publication demonstrating the clinical value of primary genetic screening in the population. Thanks @renownhealth @MayoClinicCIM @drisci
@my_helix for the support.

[Joe Grzymski @grzymski]

Thanks to @renownhealth, @DRIScience, @my_helix, and @MayoClinic for the support and academic contributions. Thanks to all the participants of the @HealthyNV - we can't do any of the work without you.

[jameslu @jameslu20]

Calculator: https://t.co/ORLUS4dyID

[jameslu @jameslu20]

#COVID2019 Love the work on Antibody Tests, but before we start thinking about immunity certificates from population screening with serology we need higher specificity.

[jameslu @jameslu20]

also demonstrates some of our most recent work building large scale genomic databases. come find us at #ashg

[jameslu @jameslu20]

Amazing work by @my_helix research team. ~200K mito allele frequency database, 4x larger than other available tools. 47% of mito is invariant. Likely to greatly impact clinical interpretation. https://t.co/wH2jzD1irs
@ATorkamani @atulbutte @RobertCGreen

[bioRxiv @biorxivpreprint]

Selective constraints and pathogenicity of mitochondrial DNA variants inferred from a novel database of 196,554 unrelated individuals https://t.co/pxoHppwWBv #bioRxiv

[jameslu @jameslu20]

Amazing work by @my_helix research team. ~200K mito allele frequency database, 4x larger than other available tools. 47% of mito is invariant. Likely to greatly impact clinical interpretation. https://t.co/wH2jzD1irs
@ATorkamani @atulbutte @RobertCGreen

[Helix @my_helix]

Working together with @renownhealth and @DRIScience we used HelixMTdb to better classify the likely pathogenicity of variants suspected to cause mitochondrial disease. Read our analysis now on @biorxivpreprint https://t.co/FjUrt52YJ1

[bioRxiv @biorxivpreprint]

Genome-wide rare variant analysis for thousands of phenotypes in 54,000 exomes https://t.co/py2WyCSl1e #bioRxiv

[jameslu @jameslu20]

congrats to the research teams @my_helix @HealthyNV on getting this test + validation study across >50,000 exomes + > 1,000 clinical phenotypes. Some great findings both of expected results and some novel things as well.

[Liz Cirulli @ETCirulli]

Excited to get our work out there on rare variant analyses for thousands of phenotypes in >50k exomes across two cohorts. This was a really fun analysis to do! @my_helix @HealthyNV

[jameslu @jameslu20]

Excited about our new initiative with @AdventHealthCFL on the WholeMe initiative with a focus on FH and cardiac disease in the community #DNADay

[Helix @my_helix]

Today we're thrilled to announce our partnership with AdventHealth Orlando, bringing the WholeMe study to 10,000 individuals in Florida. https://t.co/EoqvXSHJ2e

[jameslu @jameslu20]

@my_helix @uk_biobank @ATorkamani @RobertCGreen @atulbutte Not sure what to make of this finding in STAB1 and the T2 signal in Putamen/ Caudate. If anyone has any thoughts, let me know

[jameslu @jameslu20]

@my_helix @uk_biobank @ATorkamani @RobertCGreen @atulbutte Nice recapitulation of known results: 1) Alkaline phosphatase and ALPL which is implicated in Hypophosphatasia, 2) LDL and LDLR, APOB, PSCK9 implicated in Familial Hypercholesteremia, 3) Total Bili and UGT1A1 implicated in hyperbili diseases. also other interesting findings