#wgs — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #wgs, aggregated by home.social.
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https://www.cell.com/ajhg/fulltext/S0002-9297(26)00241-7
Landscape of parental postzygotic mutations across >11,000 rare disease trios
"Early postzygotic mutations (PZMs) that arise after fertilization but prior to primordial germ cell specification may be present in both somatic and germ cells, causing mosaicism in a parent and constitutive inheritance in their offspring. "
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https://www.cell.com/ajhg/fulltext/S0002-9297(26)00241-7
Landscape of parental postzygotic mutations across >11,000 rare disease trios
"Early postzygotic mutations (PZMs) that arise after fertilization but prior to primordial germ cell specification may be present in both somatic and germ cells, causing mosaicism in a parent and constitutive inheritance in their offspring. "
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Pipeline release! nf-core/raredisease v3.1.2 - 3.1.2 - Princess Peach (patch)!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.2#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v3.1.2 - 3.1.2 - Princess Peach (patch)!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.2#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/pacvar v1.1.0 - Neon tetra!
Longread PacBio sequencing processing for WGS and PureTarget
Please see the changelog: https://github.com/nf-core/pacvar/releases/tag/1.1.0#alignment #longread #pacbio #puretarget #variantcalling #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/pacvar v1.1.0 - Neon tetra!
Longread PacBio sequencing processing for WGS and PureTarget
Please see the changelog: https://github.com/nf-core/pacvar/releases/tag/1.1.0#alignment #longread #pacbio #puretarget #variantcalling #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v3.1.1 - 3.1.1 - Princess Peach (patch)!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.1#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v3.1.1 - 3.1.1 - Princess Peach (patch)!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.1#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v3.1.0 - 3.1.0 - Princess Peach!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.0#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v3.1.0 - 3.1.0 - Princess Peach!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.0#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Montevideo, 2011. Una cepa de K. pneumoniae aislada durante un brote: blaKPC-2, resistente a colistina. ¿Cómo sabés si otra cepa del mismo hospital es el mismo clon o un evento independiente?
El análisis filogenético las ubicó en dos clados distintos de ST258 con perfiles de resistencia completamente diferentes. Sin genómica, parecen el mismo problema.
En Equaiar hacemos este análisis para hospitales. Reporte en 48-72hs.
doi.org/10.1016/j.jgar.2018.09.001
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Pipeline release! nf-core/raredisease v3.0.0 - 3.0.0 - Mario!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.0.0#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v3.0.0 - 3.0.0 - Mario!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.0.0#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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DATE: January 07, 2026 at 07:30PM
SOURCE: BioWorld MedTechDirect article link at end of text block below.
.@GeneDx delivers #WGS prenatal testing
Here are any URLs found in the article text:
Articles can be found by scrolling down the page at https://www.bioworld.com/topics/85-bioworld-medtech .
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Since 1991 The National Psychologist has focused on keeping practicing psychologists current with news, information and items of interest. Check them out for more free articles, resources, and subscription information: https://www.nationalpsychologist.com
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It's primitive... but it works... mostly...
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-------------------------------------------------#healthcare #healthtech #healthcaretech #healthtechnology #medgadget #medicine #doctor #hospital #medtech
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DATE: January 07, 2026 at 07:30PM
SOURCE: BioWorld MedTechDirect article link at end of text block below.
.@GeneDx delivers #WGS prenatal testing
Here are any URLs found in the article text:
Articles can be found by scrolling down the page at https://www.bioworld.com/topics/85-bioworld-medtech .
-------------------------------------------------
Private, vetted email list for mental health professionals: https://www.clinicians-exchange.org
.
NYU Information for Practice puts out 400-500 good quality health-related research posts per week but its too much for many people, so that bot is limited to just subscribers. You can read it or subscribe at @PsychResearchBot
.
Since 1991 The National Psychologist has focused on keeping practicing psychologists current with news, information and items of interest. Check them out for more free articles, resources, and subscription information: https://www.nationalpsychologist.com
.
EMAIL DAILY DIGEST OF RSS FEEDS -- SUBSCRIBE:
http://subscribe-article-digests.clinicians-exchange.org
.
READ ONLINE: http://read-the-rss-mega-archive.clinicians-exchange.org
.
It's primitive... but it works... mostly...
.
-------------------------------------------------#healthcare #healthtech #healthcaretech #healthtechnology #medgadget #medicine #doctor #hospital #medtech
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Pipeline release! nf-core/oncoanalyser v2.3.0 - 2.3.0 - Spotted Nightjar!
A comprehensive cancer DNA/RNA analysis and reporting pipeline
Please see the changelog: https://github.com/nf-core/oncoanalyser/releases/tag/2.3.0#cancer #clinical #dna #exome #ngs #panel #rna #targeted #wgs #wigits #wts #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/oncoanalyser v2.3.0 - 2.3.0 - Spotted Nightjar!
A comprehensive cancer DNA/RNA analysis and reporting pipeline
Please see the changelog: https://github.com/nf-core/oncoanalyser/releases/tag/2.3.0#cancer #clinical #dna #exome #ngs #panel #rna #targeted #wgs #wigits #wts #nfcore #openscience #nextflow #bioinformatics
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Adaptive sampling #WGS is moving genomics from lab bench to bedside. In our latest work, we deliver variant, structural & methylation insights on @nanopore's PromethION platform with molecular signals emerging in minutes, not days. Watch this space 👀
#clinicalai #genomicsforhealth #nanopore #multiomicshttps://www.medrxiv.org/content/10.1101/2025.10.02.25336569v1
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Genetics Could Explain Why Cronobacter Thrives in Powdered Infant Formula, AI-Driven Study Shows
Using an artificial intelligence (AI) model to conduct a genomic meta-analysis of Cronobacter sakazakii strains, researchers from the University…
#NewsBeep #News #Genetics #Artificialintelligence #AU #Australia #infantformula #low-moisturefoods #machinelearning #powder #Science #study #UniversityofMaryland #WGS
https://www.newsbeep.com/au/1751/ -
Pipeline release! nf-core/raredisease v2.6.0 - 2.6.0 - Cacofonix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.6.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v2.6.0 - 2.6.0 - Cacofonix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.6.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v2.5.0 - 2.5.0 - Fulliautomatix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.5.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v2.5.0 - 2.5.0 - Fulliautomatix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.5.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/pacvar v1.0.1 - v1.0.1 - Sardine [3/6/2025]!
Please see the changelog: https://github.com/nf-core/pacvar/releases/tag/1.0.1
#alignment #longread #pacbio #puretarget #variantcalling #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/pacvar v1.0.1 - v1.0.1 - Sardine [3/6/2025]!
Please see the changelog: https://github.com/nf-core/pacvar/releases/tag/1.0.1
#alignment #longread #pacbio #puretarget #variantcalling #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v2.4.0 - 2.4.0 - Vitalstatistix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.4.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v2.4.0 - 2.4.0 - Vitalstatistix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.4.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v2.3.0 - 2.3.0 - Getafix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.3.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v2.3.0 - 2.3.0 - Getafix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.3.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/pacvar vv1.0.0 - nf-core/pacvarv1.0.0 - Goldfish [2/05/2024]!
Please see the changelog: https://github.com/nf-core/pacvar/releases/tag/v1.0.0
#alignment #longread #pacbio #puretarget #variantcalling #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/pacvar vv1.0.0 - nf-core/pacvarv1.0.0 - Goldfish [2/05/2024]!
Please see the changelog: https://github.com/nf-core/pacvar/releases/tag/v1.0.0
#alignment #longread #pacbio #puretarget #variantcalling #wgs #nfcore #openscience #nextflow #bioinformatics
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Wir geben dem Nachwuchs eine Chance! Die Neuauflage unseres Radfahr-Intensiv-Kurses an der Wilhelm-Grundschule #Ditzingen #WGS hat begonnen, zur Vorbereitung auf die Fahrradprüfung der #Verkehrswacht. Die liegt dieses Jahr im März, also muss der Kurs halt im Winter sein. Für die Kinder kein Problem, die sind warm angezogen und lernen gleich was Wichtiges: #Radfahren (lernen) macht auch im Winter Spaß! Trotzdem: großes Tapferkeits-Lob an die Viertklässler*innen!
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美股研究室2024年11月25日第327集 嘉賓: 臨床腫瘤科專科醫生 - 謝慧珊醫生 第二節：謝慧珊醫生專題講解「肺癌」/ Niccolo介紹及分析相關企業：基因檢測公司GeneDx。#WGS https://www.youtube.com/watch?v=kIILWcqh9gc
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Pipeline release! nf-core/raredisease v2.2.0 - 2.2.0 - Dogmatix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.2.0
#diagnostics #rare-disease #snv #structural-variants #variant-annotation #variant-calling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v2.2.0 - 2.2.0 - Dogmatix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.2.0
#diagnostics #rare-disease #snv #structural-variants #variant-annotation #variant-calling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Trotz der intensiven KuB-Orga-Woche findet der monatliche Workshop zu Suche und Bewerbungen für #Wohnungen und #WGs von der Schlafplatzorga (https://sleepingplaceberlin.wordpress.com/) heute statt. Wie üblich 20 Uhr bei uns.
Workshopsprachen: DE/ENG, Übersetzung in FR/Farsi möglich.
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#Molecular #surveillance of #influenza A virus in #SaudiArabia: #WGS and metagenomic approaches https://pubmed.ncbi.nlm.nih.gov/38904365/?utm_source=Feedly&utm_medium=rss&utm_campaign=None&utm_content=10ykRO9og5pGdo51l9DEPEpOJ3DVFIn__QK2QPM3dci1C1dEYq&fc=None&ff=20240621125233&v=2.18.0.post9+e462414
One sample containing the #antiviral #resistance-mediating #mutation #S247N toward #oseltamivir and #zanamivir was found.
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#Molecular #surveillance of #influenza A virus in #SaudiArabia: #WGS and metagenomic approaches https://pubmed.ncbi.nlm.nih.gov/38904365/?utm_source=Feedly&utm_medium=rss&utm_campaign=None&utm_content=10ykRO9og5pGdo51l9DEPEpOJ3DVFIn__QK2QPM3dci1C1dEYq&fc=None&ff=20240621125233&v=2.18.0.post9+e462414
One sample containing the #antiviral #resistance-mediating #mutation #S247N toward #oseltamivir and #zanamivir was found.