Philip Boone
@Philip_M_BooneClinical Geneticist at @BostonChildrens. Genome Researcher at @TalkowskiLab.
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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
✨💰FUNDING ANNOUNCEMENT💰✨ @GREGoR_research 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/🧵
The @LancetCountdown Report shows that the health impacts of #ClimateChange are increasing. This is a sobering reminder of how much further we still have to go. @WHO supports the call for a fossil fuel non-proliferation treaty. We must break our addiction to fossil fuels.
🚨 The Lancet Countdown 2022 Report is out now! 🔜 @MarinaRomanell2 will highlight the key findings alongside key forces on climate action for health at our launch event today at 14:00 BST Register now: lancetcountdown.org/event/2022-lau… #LancetClimate22
Loving the @TalkowskiLab representation on the @AJHGNews homepage! Congratulations @kiana_mohajeri, @RYbioinfo, @serkanerdin, @Dadi_Gao, @Philip_M_Boone, @MoysesMariana, @K8e2014, @RyanLCollins13, and @cglowther! Links & details for both articles below.
✨FUNDING ANNOUNCEMENT: Please share!✨ The @GREGoR_research 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/🧵
"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 @AmerAcadPeds
New paper out today, nicely coinciding with #ESHG2022! Rare, deleterious variants in @uk_biobank in paediatric monogenic @DDG2P genes have lifelong cognitive and socioeconomic effects in adults; sciencedirect.com/science/articl…
New from Barton et al: A spectrum of recessiveness among Mendelian disease variants in UK Biobank bit.ly/3t4da3y
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… @NatureMedicine
How great is this? A 25 min bedside test that will reduce the risk of drug-induced permanent hearing loss in babies. Well done @GeneticBill and team. @ManCAD_UoM @BSA_Audiology @BAAudiology
Mary's baby Khobi needed antibiotics quickly & was given the new genetic test on the @PALOH_Study, which showed she was susceptible to hearing loss from gentamicin. She was successfully treated with an alternative antibiotic. 👇 manchesterbrc.nihr.ac.uk/news-and-event…
Our (@kiana_mohajeri @TalkowskiLab @eva_dhaene @SVergult) 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
Very excited to share @TalkowskiLab’s latest work on neuronal CRISPR-modeling of coding and non-coding variants in MEF2C and the 5q14.3 TAD @biorxivpreprint🎉 tinyurl.com/4fp5rz8z
Very excited to share @TalkowskiLab’s latest work on neuronal CRISPR-modeling of coding and non-coding variants in MEF2C and the 5q14.3 TAD @biorxivpreprint🎉 tinyurl.com/4fp5rz8z
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
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…
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 @AnneOtation @HeidiRehm & @TalkowskiLab, who will lead the center: broad.io/Center-Mendeli…
Out in @AJHGNews today! We show that genetic predisposition to overproduction of lymphocytes increases the risk of childhood acute lymphoblastic #leukemia. Fantastic team effort led by @adamdesmith @uscpphs 🧬 @UCSF_Epibiostat @UCSFCancer @WitteLab
New! @Linda_Kachuri et al. leverage @uk_biobank data to provide new insights into susceptibility to pediatric leukemia bit.ly/38uVDXj
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 @jrbperry, @EvaHoffmannLab, @iroig, @kate_s_ruth, #ReproGen and many others. nature.com/articles/s4158…
Engineered Bacterial Therapeutics Get Boost from #PKU Study Data Published data from @Synlogic demonstrate proof-of-mechanism and potential to use engineered bacteria in the treatment of rare #metabolicdisorders. Learn more: ow.ly/o3so50FCHdK
We are seeking a stellar Genomics & Technology Core Manager in the @CGM_MGH @MGH_RI Manager will engage in extensive technology development, personnel and project management, and interactions across the @CGM_MGH @harvardmed @broadinstitute communities. go.nature.com/30joPfL
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