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Updated #GeneReviews chapter on hypophosphatasia, characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase: loom.ly/xeMqjig #rarediseases #health
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Updated #GeneReviews overview chapter on EPB42-related hereditary spherocytosis, which is a chronic nonimmune hemolytic anemia that is usually of mild-to-moderate severity: loom.ly/SjazWnY #rarediseases #genetics #health
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Today's blog celebrates the intersection of #NationalLibraryWeek & Nat'l Public Health Week #NPHW. To illustrate the connection between these observances, our comms team spoke NLM staff members & contractors to learn how their work advances public health.
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BLAST+ 2.2.13 now comes with SRA/WGS BLAST and can search data in native VDB format locally or at NCBI! loom.ly/LoogUt4 #NCBIBLAST
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If you have not heard about MANE Select transcripts as the default reporting tx for each gene, this is a must read! A brilliant effort from NCBI and EMBL-EBI; adopted by ClinVar, gnomAD, DECIPHER, etc. And there are MANE Plus Clinical transcripts when you need more than one.
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Huge congratulations for the researchers at , RefSeq, , and colleagues for this work published in .
Take a look at the full paper here 👇
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Updated #GeneReviews chapter NDP-related retinopathies, which typically involve bilateral and symmetric fibrovascular changes of the retina that are evident at birth and usually cause varying degrees of visual impairment: loom.ly/p4UlZWk #rarediseases #genetics #health
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Updated #GeneReviews overview chapter on dyskeratosis congenita and related telomere biology disorders, which are caused by impaired telomere maintenance resulting in short or very short telomeres: loom.ly/tS0_A4g
#rarediseases #genetics #health
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Updated #GeneReviews chapter on xeroderma pigmentosum, characterized by acute sun sensitivity, sunlight-induced ocular involvement and greatly increased risk of sunlight-induced cutaneous neoplasms: loom.ly/Vi1bM7I #rarediseases #genetics #health
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The ClinVar community is stronger than ever. Search ClinVar today to find out why and tell us about your experience at #ACMGMtg22. loom.ly/kDbIAXA
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Updated #GeneReviews overview chapter on Wilms tumor predisposition, intended to help clinicians determine if a genetic basis can be identified in an individual with Wilms tumor: loom.ly/tjSbO14 #rarediseases #genetics #health
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Updated #GeneReviews chapter on Baraitser-Winter cerebrofrontofacial syndrome, a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability: loom.ly/s5NG7IE #rarediseases #genetics #health
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We missed you at our live webinar about #ElasticBLAST, but don't worry! We saved you a recording! Check it out here:
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New #GeneReview chapter on chylomicron retention disease, characterized by the inability to secrete chylomicrons from the enterocytes following the ingestion of fat, which leads to steatorrhea and, in some cases, hepatomegaly: loom.ly/yMtdpgQ #raredisesases #genetics
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BLAST+ 2.13.0 now available with SRA BLAST, ARM Linux executables, and database metadata! loom.ly/5TCdIFo #NCBIBLAST
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Join us for our virtual workshop, "Identifying Clinically Relevant Genes in Bacterial Genomes"! Applications are now open: loom.ly/HslnJaU #SciEd
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Access patient-level data to enrich your research studies. Get a sneak-peak of the diverse dbGaP studies representing over 700 disease and focus areas. loom.ly/-kA03vg #ACMGMtg22
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Learn how you can use #NCBI resources to research, detect, and treat genetic phenotypes. We encourage you to join our community of thousands of submitters! #ACMGMtg22 loom.ly/79Sh8QM
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dbSNP supports interpretation and classification of clinically significant variants by offering allele frequency for ~1 billion variants (ALFA) from 200K subjects in 12 diverse populations. Learn more: loom.ly/cLcDfIQ #ACMGMtg22
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What are the latest Pharmacogenetics topics you learned about at #ACMGMtg22? Tell the #MGS team about it and explore more peer-reviewed, clinically relevant and medically actionable pharmacogenetics articles.
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Updated #GeneReviews chapter on SALL4-related disorders, which include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS):
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Find on the NLM Bookshelf new and updated Treatment Improvement Protocols from SAMHSA. Each provides best practice guidelines for the treatment of substance abuse. #NDAFW
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Human genetic tests and molecular tests for microbes, including tests to diagnose COVID-19, have never been easier to find. Learn how GTR can help you and spread the word at #ACMGMtg22 #medicalgeneticsawareness
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We extend appreciation to all genetics professionals for their hard work! #MedGen is a free resource that can help you care for your patients and support your genetics research. #ACMGMtg22 #medicalgeneticsawareness
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Search and browse the produced third edition of Diabetes in America on the NLM Bookshelf: loom.ly/1S8QpEo #AmericanDiabetesAssociationAlertDay
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#GeneReviews, your open-access online source of clinically relevant and medically actionable information on inherited conditions for the busy clinician, is at ACMG 2022! Stop by and say hello! #ACMGMtg22 #medicalgeneticsawareness loom.ly/256bqqU
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If you’re attending #ACMGMtg22, visit the virtual poster number eP369 on Increased Automation Reduces Turnaround Time for Submissions to ClinVar and learn all about our exciting new features. loom.ly/mERNl1c
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Updated #GeneReviews chapter on cerebrotendinous xanthomatosis, a lipid storage disease characterized by diarrhea, cataract, tendon xanthomas, and progressive neurologic dysfunction:
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