#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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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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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/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/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/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/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 v3.1.1 - 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 v3.1.1 - 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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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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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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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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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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President meets world leaders and heads of delegations at… https://www.byteseu.com/1773302/ #2026 #and #attending #delegations #heads #leaders #meets #NorthMacedonia #of #president #WGS #World
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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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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
-
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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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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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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https://www.europesays.com/pl/133393/ Amerykański system łączności satelitarnej dla Polski #AgencjaRozpoznaniaGeoprzestrzennegoIUsługSatelitarnych #BreakingNews #BreakingNews #CezaryTomczyk #Headlines #LatestNews #LatestNews #łączność #łącznośćSatelitarna #MarcinGórka #MinisterstwoObronyNarodowej #Nagłówki #NajważniejszeArtykuły #News #Polish #Polska #Polski #satelity #swiat #TopStories #TopStories #usa #WGS #Wiadomości #wojsko #WojskoPolskie #World #WorldNews #WorldNews
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Het Nederland van rechts: China aan de Noordzee. Iedere burger is verdacht totdat ie zélf het tegendeel kan bewijzen.
"Wet gegevensverwerking samenwerkingsverbanden (WGS) biedt grote reden tot zorgen"
-> "Er worden steeds meer methodes ontwikkeld om gebruik te maken van deze data. In plaats van deze in te zetten vóór de burger, lijken overheidsinstanties meer geïnteresseerd in hoe ze deze data kunnen gebruiken tégen de burger."
(Via @bitsoffreedom ) #privacy #WGS
https://www.bitsoffreedom.nl/2025/11/19/wet-wgs-biedt-grote-reden-tot-zorgen/ -
Het Nederland van rechts: China aan de Noordzee. Iedere burger is verdacht totdat ie zélf het tegendeel kan bewijzen.
"Wet gegevensverwerking samenwerkingsverbanden (WGS) biedt grote reden tot zorgen"
-> "Er worden steeds meer methodes ontwikkeld om gebruik te maken van deze data. In plaats van deze in te zetten vóór de burger, lijken overheidsinstanties meer geïnteresseerd in hoe ze deze data kunnen gebruiken tégen de burger."
(Via @bitsoffreedom ) #privacy #WGS
https://www.bitsoffreedom.nl/2025/11/19/wet-wgs-biedt-grote-reden-tot-zorgen/ -
Het Nederland van rechts: China aan de Noordzee. Iedere burger is verdacht totdat ie zélf het tegendeel kan bewijzen.
"Wet gegevensverwerking samenwerkingsverbanden (WGS) biedt grote reden tot zorgen"
-> "Er worden steeds meer methodes ontwikkeld om gebruik te maken van deze data. In plaats van deze in te zetten vóór de burger, lijken overheidsinstanties meer geïnteresseerd in hoe ze deze data kunnen gebruiken tégen de burger."
(Via @bitsoffreedom ) #privacy #WGS
https://www.bitsoffreedom.nl/2025/11/19/wet-wgs-biedt-grote-reden-tot-zorgen/ -
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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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
-
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
-
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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https://www.europesays.com/uk/450338/ GeneDx Launches Infinity Dataset with 2.5M Genomic Patient Records #AAPConference2025 #DiagnosticYield #ExomeDx #GeneDx #GeneticMedicine #GeneticTesting #Genetics #GenomeDx #GenomicTesting #InfinityDataset #PediatricGenomics #PhenotypicData #RareDiseaseDiagnosis #Science #UK #UnitedKingdom #WGS