🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

🚨🔊New medRxiv from Talkowski Lab🔊🚨 Interested in rare copy-number variants (rCNVs), disease, or dosage sensitivity? We aggregated rCNVs in ~750k individuals to build genome-wide maps of dosage sensitivity across 30 disorders: medrxiv.org/content/10.110… 🧵👇 1/8

We are seeking a stellar Genomics & Technology Core Manager in the CGM at MGH @MGH_RI. Manager will engage in extensive technology development, personnel and project management, and interactions across the CGM at MGH Harvard Medical School Broad Institute communities. go.nature.com/30joPfL

Engineered Bacterial Therapeutics Get Boost from #PKU Study Data Published data from Fellowmind - voorheen bekend als @Synlogic demonstrate proof-of-mechanism and potential to use engineered bacteria in the treatment of rare #metabolicdisorders. Learn more: ow.ly/o3so50FCHdK

1/8 excited to see our paper out in Nature today, integrating genomics and functional data, to shed light on the biology of reproductive ageing in women. Fun collaboration with John Perry, Hoffmann_lab, Ignasi Roig, Kate Ruth, #ReproGen and many others. nature.com/articles/s4158…

The Center for Mendelian Genomics will join five other sites across the country to increase the number of diagnoses returned to patients with single-gene disorders. Read more in a Q&A with Anne O'Donnell-Luria Heidi Rehm & Talkowski Lab, who will lead the center: broad.io/Center-Mendeli…

We are looking for Postdoc candidates! If you are interested in studying mechanism of #structuralvariation formation and human #rarediseases, this is for you! pnri.org/about/careers/…

If a patient had complications in one childbirth delivery mode, a physician may be more likely to switch to the other delivery mode for the next patient, @vini_singh_ shows. This use of “heuristics” may lead to suboptimal effects on patient health. 1/2 science.org/doi/10.1126/sc…

1/7 Two nicely complementary preprints highlight one of my favorite topics - balanced chromosomal rearrangements (BCRs) and their impact on developmental disorder (DD) risk and 3D regulatory architecture. See below and the great 🧵s from the talented trainees who led the studies

Very excited to share Talkowski Lab’s latest work on neuronal CRISPR-modeling of coding and non-coding variants in MEF2C and the 5q14.3 TAD bioRxiv🎉 tinyurl.com/4fp5rz8z

Our (Kiana Mohajeri Talkowski Lab Eva D'haene Sarah Vergult) latest preprint discusses the functional outcomes of NDD associated locus of MEF2C and 5q14.3 TAD SVs in neuronal cell lines using CRISPR-modeling. Happy to hear your comments tinyurl.com/4fp5rz8z

How great is this? A 25 min bedside test that will reduce the risk of drug-induced permanent hearing loss in babies. Well done Bill Newman and team. @ManCAD_UoM Beijing Society of Audiology British Academy of Audiology

Combined donor and recipient type 2 diabetes polygenic risk score among liver transplant recipients predicts post-transplant diabetes- may inform preemptive management strategies nature.com/articles/s4159… Nature Medicine

New from Barton et al: A spectrum of recessiveness among Mendelian disease variants in UK Biobank bit.ly/3t4da3y

New paper out today, nicely coinciding with #ESHG2022! Rare, deleterious variants in UK Biobank in paediatric monogenic David FitzPatrick genes have lifelong cognitive and socioeconomic effects in adults; sciencedirect.com/science/articl…

"For each additional $1,000 in per-child #EITC and #CTC tax refunds, state-level rates of reported child maltreatment declined in the week of and 4 weeks following refund payments by an overall estimated 5 percent." publications.aap.org/pediatrics/art… via American Academy of Pediatrics

✨FUNDING ANNOUNCEMENT: Please share!✨ The GREGoR Consortium Consortium announces grant opportunities to support projects aimed at developing novel approaches to identify candidate genes and go beyond exome sequencing to tackle unsolved cases. gregorconsortium.org/opportunity 1/🧵

Loving the Talkowski Lab representation on the AJHG homepage! Congratulations Kiana Mohajeri, (L3, ❄️), Serkan Erdin, Dadi, Philip Boone, Mariana Moyses-Oliveira, Katie, Ryan Collins, and Chelsea Lowther! Links & details for both articles below.

The The Lancet Countdown on Health and Climate Change Report shows that the health impacts of #ClimateChange are increasing. This is a sobering reminder of how much further we still have to go. World Health Organization (WHO) supports the call for a fossil fuel non-proliferation treaty. We must break our addiction to fossil fuels.

✨💰FUNDING ANNOUNCEMENT💰✨ GREGoR Consortium Consortium is offering grant opportunities to support projects aimed at developing novel approaches to identify candidate genes and go beyond exome sequencing to tackle unsolved cases. Please share! gregorconsortium.org/opportunity 1/🧵

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly biorxiv.org/cgi/content/sh… #bioRxiv