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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Thank you for helping us reach a ClinVar milestone: TWO MILLION submitted records! Learn more about ClinVar and search for variants here: loom.ly/kEmoGVI
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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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ElasticBLAST 0.2.5 is live! This release features BLAST+ 2.13.0 and improved error reporting, allowing users to better diagnose issues with a search.
Release notes: loom.ly/n2K44sE
Download options: loom.ly/JPYAEkc
Read about ElasticBLAST: loom.ly/kgeDNLg
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Thank you for helping us reach a ClinVar milestone: TWO MILLION submitted records! Learn more about ClinVar and search for variants here: loom.ly/kEmoGVI
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Applications NOW OPEN for our virtual workshop, "Using NCBI's Genome Data Viewer to Visualize Eukaryotic Genome Data"! More info here: loom.ly/ItT9hrI #SciEd #Genomics
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NCBI hidden Markov models (HMM) release 8.0 now available! Find out more about what's new in this latest release at loom.ly/fn17YHQ.
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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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Day 1 (today!) of NLM Curation at Scale Workshop featured remarks by Patti Brennan, NLM Director, and included talks on projects funded by NLM's Extramural Program, and Curation in the Ecosystem of Science and Scholarship. Register for the next two days! loom.ly/gT-neJE
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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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Test server for the PubMed API (E-utilities) is now available! We will be moving to an updated version of the E-utilities API for PubMed in June 2022. Don’t wait until launch! Try the test server and provide feedback. Learn more here: loom.ly/zuUJITE
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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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Introducing ElasticBLAST – BLAST® is now easier, bigger, and faster on the Cloud! To learn more about ElasticBLAST, check out our introduction at loom.ly/4rc9crI
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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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Updated #GeneReviews chapter on LMNA-related dilated cardiomyopathy, by left ventricular enlargement and/or reduced systolic function preceded by or accompanied by conduction system disease and/or arrhythmias:
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New PMC website design is now live! We have launched a fresh look and feel to the #PubMedCentral (PMC) website. Learn more and provide feedback: loom.ly/1UIEFwE
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Happy Medical Genetic Awareness week! NCBI supports the medical genetics community by providing free resources accessible from ncbi.nlm.nih.gov/variation/. Tell us how NCBI has helped you! #medicalgenetics #medicalgeneticsawareness #ACMGMtg22
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PMC's new website design is going live on Monday! Check out our fresh look and feel, and provide your feedback! Learn more: loom.ly/RS3JBHA #PubMedCentral
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Updated #GeneReviews chapter on multiple endocrine neoplasia type 1, which includes varying combinations of more than 20 endocrine and non-endocrine tumors:
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