genedrive’s Post

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review #RareDisease #Genetics This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. https://lnkd.in/d5khpgd4

Interested? Fill in the form below to know more details👇 https://lnkd.in/dSYMMTXa #internationalconference #onlineconference #genetics #dentalgenetics #clinicaldiagnostics #academy #onlineevent #julyevent #dentalconference

Unlock the power of personalized medicine! PGx testing analyzes your genes to find the medications and dosages that work best for YOU. Talk to your doctor to learn more! #mentalhealthawareness #pgxtesting #genetics

Are you an #AdvancedTherapy developer closely involved with analytics? The #cell and #gene therapy industry faces significant barriers to growth due to inconsistent and fragmented analytical platforms, and we are looking to pull together a consortium to overcome these barriers. To support this, we have developed a survey to gather insights from industry experts on the specific challenges encountered with current analytical methods. Complete the survey ☝️ Survey deadline 🚨: 18th December #CellTherapy #GeneTherapy #AdvancedTherapies #ATMPs

Simplify your FFPE sample prep for #NGS! Our integrated, scalable approach takes you from deparaffinization, to extraction, to purification—and all the way through shearing. https://lnkd.in/gBnKSm9M #genomics #sampleprep #dna #genetics #cancerresearch #laboratory #ffpe

Unlock the power of personalized medicine! PGx testing analyzes your genes to find the medications and dosages that work best for YOU. Talk to your doctor to learn more about IDgenetix. #mentalhealthawareness #pgxtesting #genetics

A close-up look at the trichomes that line the surface of our plants and are responsible for producing a wide variety of compounds, including cannabinoids and terpenes. #alphatype #trichomes #genetics #cannabisgenetics #hempgenetics

Agarose Gel Electophoresis. How to load the prepared samples(DNA, RNA,or Proteins) in the gel! samples mixed with loading dye are placed in the specific well in the agarose gel. #Agarose Gel Electophoresis #Electrophoresis #GenIran #Genetics #Loading dye

Good blog https://lnkd.in/ekJQrgea from our Principal Scientist, Chantal Hargreaves describing how Nucleome's high resolution #genetic mapping approach has identified a novel disease target for rheumatoid #arthritis. One of two posters the Nucleome team presented at last week's 2024 Dark Genome Symposium https://lnkd.in/e76WBGhD #DGS2024 #genetics #poster

Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants #RareDisease #Genetics #ACMG They reported a distinctive distribution of 1,464 P/LP SF variants in 16,713 participants. There were 427 unique variants in ACMG genes and 265 in non-ACMG genes. The most frequently mutated genes among the ACMG and non-ACMG gene lists were TTR (41.6%) and CHEK2 (7.16%), respectively. Overall, variants of possible medical importance were found in 8.76% of participants in both ACMG (5.81%) and non-ACMG (2.95%) genes. https://lnkd.in/deyCWMhR