Genoox provides fast and accurate tools to solve complex, genomic data challenges, offering advanced, end-to-end genomic analysis tools
Joined November 2016
- Tweets47
- Following123
- Followers216
- Likes15
Genoox is thrilled to learn that the Royal Mint marks Rosalind Franklin 100th birthday with a commemorative 50p coin, checkout of free VCF analysis tool "Franklin" which helps us keep a constant reminder of Franklin's unacknowledged achievement
bit.ly/3gh24jj
Happy #DNADAY2020! Today we honor Rosalind Franklin who was the first to confirm the double helix shape. Genoox commemorates Rosalind every day, and we named our free interpretation platform 'Franklin' as a constant reminder of her achievements bit.ly/2Ky2rHZ
#DNADay
Happy Match Day #gcchat 👏🏻 Congratulations to all future GCs that matched today!
Genoox welcomes you all to check out Franklin - FREE variant interpretation tool, perfect for new GCs. Join our community today! bit.ly/2VAKgaC
#GCMatch2020
Genoox is incredibly proud to take part in the largest study to date to identify genomic and other biological factors of patient susceptibility for the novel coronavirus, lead by Hannover Medical School in Germany
#covid19 #fightcovid #covid19testing
bit.ly/2R2rFSi
Analysis of 2,658 WGS data from 38 cancer types over time reveals the evolutionary process of driver mutations in cancer. These often precede diagnosis by years, and may be utilized for early detection of cancer.
go.nature.com/3boJkfH
Multiple open-access publications from the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Project, based on WGS and integrative analysis on over 2,600 primary cancers and their matching normal tissues across 38 distinct tumor types.
go.nature.com/2tNbTT2
Promising results for gene therapy of Chronic granulomatous disease (CGD).
After 12 months of treatment, 6 of 9 severely affected X-linked CGD (X-CGD) patients had no new CGD-related infections, & have been able to discontinue CGD-related antibiotics.
go.nature.com/2RQP61W
GWAS analysis of 70k exoms reveal 64 new gene-phenotype associations.
Singletons ,which cannot be discovered using micro-arrays, make significant contributions to the results, demonstrating the utility of NGS based GWAS.
go.nature.com/37EWEtZ
Largest Exome sequencing study of autism spectrum disorder identifies 102 ASD risk genes, including 30 novel genes, previously unknown to be related.
bit.ly/2GqFfcm
Important update for gene classification of Inborn Errors of Immunity/Primary Immunodeficiencies. This includes 64 gene defects that have been discovered since the previous update (Jan 2018) or have been confirmed or expanded upon in subsequent studies.
bit.ly/2TFr9vv
Classification guidelines include "hotspots" for critical functional domains, but no corresponding "coldspots". New paper @GIMJournal shows that including such "coldspots" in BRCA1 & BRCA2, reclassifies 60% of missense ClinVar VUS into likely-Benign.
go.nature.com/2tg0DhD
Genoox retweeted
Genome sequencing for sick newborns is getting legs and someday will likely become standard practice. Now we're (@TheACMG) talking (points to consider) about fetal sequencing nature.com/articles/s41436-0… @GIMJournal #openaccess by Kristin Monaghan and colleagues
New paper by @_BIST employs smart clustering of somatic variants, based mainly on recurrence, linking them to separate clinically meaningful phenotypes. These methods may pave the way to replacing / augmenting multiple clinical diagnostics with WGS.
bit.ly/36C1o35
Genoox retweeted
Re-analysis of ~100 rare disease and sudden death cases with @KingOfGenomes (nice handle) and @GenooxTeam uncovers missed pathogenic variants:
genomemedicine.biomedcentral…
Re-analyze those old exomes! A small increase in yield is highly impactful for those with an updated report.
Interesting paper in @biorxivpreprint shows a cross-biobank association of polygenic risk scores & shorter life span. This further underscores PRSs potential role in informing medical interventions for long-term health preserving effects.
bit.ly/38njIhJ
Excited our abstracts for #ACMGMtg20 were accepted, covering our AI-based SV classifier; and a case study of our AI-based small variants classifier, ClinVar time capsule experiment, yielding robust results.
Looking forward to meeting you all at #ACMGMtg20
Genoox retweeted
#Variant classification and interpretation are important skills for #geneticcounselors. But it takes so long! ⏰
Streamline it for free with @GenooxTeam to access variant info including publications, ACMG classifications, phenotypes & more 🧬
👉bit.ly/Franklin_D2day 👈
New paper in @nature shows fungi progress cancer (specifically PDA), indicates a possible mechanism via MBL activation.
Beside broadening the potential for future treatments, this research path may help to better connect genetic analysis w/ clinical data.
go.nature.com/33xPoNL