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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

#Variant classification and interpretation are important skills for #geneticcounselors. But it takes so long! ⏰ Streamline it for free with Genoox to access variant info including publications, ACMG classifications, phenotypes & more 🧬 👉bit.ly/Franklin_D2day 👈

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

Interesting paper in bioRxiv 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

Re-analysis of ~100 rare disease and sudden death cases with es (nice handle) and Genoox uncovers missed pathogenic variants: genomemedicine.biomedcentral.com/articles/10.11… Re-analyze those old exomes! A small increase in yield is highly impactful for those with an updated report.

Genome sequencing for sick newborns is getting legs and someday will likely become standard practice. Now we're (ACMG) talking (points to consider) about fetal sequencing nature.com/articles/s4143… Genetics in Medicine #openaccess by Kristin Monaghan and colleagues

New paper by BIST-Barcelona Institute of Science and Technology 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

Classification guidelines include "hotspots" for critical functional domains, but no corresponding "coldspots". New paper Genetics in Medicine shows that including such "coldspots" in BRCA1 & BRCA2, reclassifies 60% of missense ClinVar VUS into likely-Benign. go.nature.com/2tg0DhD

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

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

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

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

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

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

Genoox is celebrating #Rarediseaseday! WE ARE THE 300 MILLION!

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

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

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

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