Courtney French

Bioinformatician at @BostonChildrens in Research Computing @bch_rc working on genomic analysis for the diagnosis of rare disorders.

[Prof Zornitza Stark @ZornitzaS]

👉Hot off the press! @JAMANeuro @JAMANetwork

Time for rapid genomes in neonatal hypotonia?
We think so!

Great ����🧬 #collaboration @BostonChildrens @RCHMelbourne @MCRI_for_kids @SickKidsNews @GreatOrmondSt @CUH_NHS @GenomeSeb @cefrn @pankajagrawalb

https://t.co/AhnmvNaTj1

[Human Genetics and Genomics Advances @HGGAdvances]

New! @cefrn et al. present an improved pipeline for rapid trio WGS analysis for rare pediatric disorders #OA
https://t.co/vtDexXot3Z

[Robert C. Green @RobertCGreen]

Just out this morning in AJHG, the most detailed description ever published for returning genomic results in research from our @MassGenBrigham #Biobank! Congrats to the first/last authors @CarrieBlout @NidhiPShahMD, Kalotina Machini & Matt Lebo.

[Santiago Carmona 🧬 🖥️ @carmonation]

An intuitive #Rstats #scRNA-seq tool to isolate cell populations of interest.

One-liner example:
scGate(data = seurat_object, model = gating_model(name = "NK", signature = c("KLRD1","CD3D-"))

https://t.co/BsczZOTh1m

[Prof Zornitza Stark @ZornitzaS]

Should rapid #genomics be standard of care?
We review >20 studies >1500 patients
+ more on #bioethics #impsci #healtheconomics #GCchat

With ⁦@EllardSian⁩ ⁦@NHSgms⁩ ⁦@AusGenomics⁩
The evidence is compelling 🧬⏱✅
https://t.co/Uo8WFGLn9X https://t.co/7YmDnKL54z

[Genomics England @GenomicsEngland]

The #GA4GHCommunity has come together to release a @CellGenomics special issue containing 10 papers, including a marker paper, technical papers, and more. We would like to thank the many authors who contributed hard work to make this #GA4GH special issue possible.

[Cambridge University @Cambridge_Uni]

A single blood test could shorten the ‘diagnostic odyssey’ experienced by many people with rare #GeneticDisorders, a new study shows: https://t.co/8vyPIQV2pI

@MRC_MBU @CamNeuro @GenomicsEngland
#MitochondrialDisease #RareDiseases

[Boston Children's @BostonChildrens]

@BostonChildrens Epilepsy Genetics Program is on a tear! It’s helped discover dozens of genetic causes of #epilepsy. Learn more about their research. https://t.co/cjQrrxvroX.

[Google DeepMind @GoogleDeepMind]

The #AlphaFold source code has been updated and now accounts for multi-chain protein complexes - providing a significant improvement in accuracy for predicting protein interactions: https://t.co/4gyZ0loLrd

Generate predictions from your browser via: https://t.co/2Vd4itjElu

[Boston Children's @BostonChildrens]

Despite varying reports, a large percentage of American adults are now eligible for their #COVID19 booster shot. Our Dr. Benjamin Rader provides clarity on the #booster data on @CNN.
https://t.co/lIvpqPCFbR

[Heidi Rehm @HeidiRehm]

We are delighted to announce this year's call for applications supporting postdoctoral fellows for the NHGRI-funded MGB T32 Training Program in Precision and Genomic Medicine https://t.co/wYCiYPzIBL
Please RT or share w/ those who may be interested
cc @jorsmo

[James Prendergast @JGDPrendergast]

Improved variant calling and phasing with long read data https://t.co/eWf8BNIxGV

[Keren Carss @kerencarss]

Great to see this important study published: "Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children."
Congrats @cefrn @albasanchisjuan @IsaDelon @imagineIDstudy et al!
https://t.co/piQTUQ9YTF

[Isabelle Delon @IsaDelon]

Immensely proud to be part of the Next Generation Children Project Team and having delivered WGS results through the NHS @acgs_news @BritSocGenMed @cefrn BBC News - Genome sequencing 'revolution' in diagnosis of sick children https://t.co/rMStLTRfXk