@ngsstudent.bsky.social
Reposted
We investigated Constellation from Illumina @bcmhgsc.bsky.social for rare disease cases @gregor-research.bsky.social from @bcmhouston.bsky.social.
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
Constellation illuminates rare disease genetics
Despite significant advances in genomic sequencing, the resolution of many rare disease cases is still hindered by variant detection limitations. Short reads struggle in homologous regions, and long r...
www.medrxiv.org
October 20, 2025 at 1:40 PM
We investigated Constellation from Illumina @bcmhgsc.bsky.social for rare disease cases @gregor-research.bsky.social from @bcmhouston.bsky.social.
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
Reposted
Next talk by Julian Lucas from Karen Miga's lab presenting on Accurate representation of globally diverse human haplotypes as part of the Human Pangenome Reference Consortium release 2 encompassing 230 samples with >6k T2T highly continuous chromosomes and error rate ~1 per 500k bases #ASHG25
October 17, 2025 at 9:34 PM
Next talk by Julian Lucas from Karen Miga's lab presenting on Accurate representation of globally diverse human haplotypes as part of the Human Pangenome Reference Consortium release 2 encompassing 230 samples with >6k T2T highly continuous chromosomes and error rate ~1 per 500k bases #ASHG25
Reposted
The murder of Charlie Kirk was criminal, wrong, and should be condemned.
And Charlie Kirk was a horrible, hateful man who spent his life radicalizing young people to embrace their worst demons by targeting women, people of color, immigrants, and the marginalized.
I refuse to sanitize him.
And Charlie Kirk was a horrible, hateful man who spent his life radicalizing young people to embrace their worst demons by targeting women, people of color, immigrants, and the marginalized.
I refuse to sanitize him.
September 11, 2025 at 5:03 AM
The murder of Charlie Kirk was criminal, wrong, and should be condemned.
And Charlie Kirk was a horrible, hateful man who spent his life radicalizing young people to embrace their worst demons by targeting women, people of color, immigrants, and the marginalized.
I refuse to sanitize him.
And Charlie Kirk was a horrible, hateful man who spent his life radicalizing young people to embrace their worst demons by targeting women, people of color, immigrants, and the marginalized.
I refuse to sanitize him.
Reposted
TRsv: simultaneous detection of tandem repeat variations, structural variations, and short indels using long read sequencing data. #LongReads #Sequencing #SVs #TRs #CNVs #Indels #Bioinformatics #Sequencing #GenomeBiology 🧬 🖥️
genomebiology.biomedcentral.com/articles/10....
genomebiology.biomedcentral.com/articles/10....
September 1, 2025 at 5:06 PM
TRsv: simultaneous detection of tandem repeat variations, structural variations, and short indels using long read sequencing data. #LongReads #Sequencing #SVs #TRs #CNVs #Indels #Bioinformatics #Sequencing #GenomeBiology 🧬 🖥️
genomebiology.biomedcentral.com/articles/10....
genomebiology.biomedcentral.com/articles/10....
Reposted
Translon: a single term for translated regions. #Translation @natmethods.nature.com
September 4, 2025 at 9:15 AM
Translon: a single term for translated regions. #Translation @natmethods.nature.com
Reposted
I’m excited to share my latest work with Marcella Franco, @mariagtac.bsky.social, and an amazing team. We used multi-omics to dissect key pathways of B cell activation, exploring gene programs, splicing, cell fates, and disease heritability in activated B cells.
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
May 28, 2025 at 4:00 PM
I’m excited to share my latest work with Marcella Franco, @mariagtac.bsky.social, and an amazing team. We used multi-omics to dissect key pathways of B cell activation, exploring gene programs, splicing, cell fates, and disease heritability in activated B cells.
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Reposted
Synonymous variants should not be discounted from analysis. They can still be part of a disease like the case Smitha Kumble presented. #eshg2025
May 25, 2025 at 8:56 AM
Synonymous variants should not be discounted from analysis. They can still be part of a disease like the case Smitha Kumble presented. #eshg2025
Reposted
Pirruccello #eshg2025 - “There is really one game in town right now that is @ukb UKB.” - no one else is producing image data in healthy heart at this scale. @ukbiobank.bsky.social Taking a deep-dive into image-derived phenotypes such as sphericity and cardiac age acceleration.
May 25, 2025 at 1:18 PM
Pirruccello #eshg2025 - “There is really one game in town right now that is @ukb UKB.” - no one else is producing image data in healthy heart at this scale. @ukbiobank.bsky.social Taking a deep-dive into image-derived phenotypes such as sphericity and cardiac age acceleration.
Reposted
📍Second day of #ESHG2025 and here’s a quick recap of this morning’s sessions:
🧬 W04 – Long-read sequencing for beginners
A great workshop where I tried to dive deeper into long-read analysis 🔍. Also got to learn about de novo assemblies using long-read data!
🧬 W04 – Long-read sequencing for beginners
A great workshop where I tried to dive deeper into long-read analysis 🔍. Also got to learn about de novo assemblies using long-read data!
May 25, 2025 at 1:27 PM
📍Second day of #ESHG2025 and here’s a quick recap of this morning’s sessions:
🧬 W04 – Long-read sequencing for beginners
A great workshop where I tried to dive deeper into long-read analysis 🔍. Also got to learn about de novo assemblies using long-read data!
🧬 W04 – Long-read sequencing for beginners
A great workshop where I tried to dive deeper into long-read analysis 🔍. Also got to learn about de novo assemblies using long-read data!
Reposted
Very nice educational session on how to detect difficult variants on IGV with LRGS! #eshg2025
#ESH2025
What a wonderful educational session by Dr Bart Van der Sanden (Radbound UMC) on long read sequencing:
Technical interpretation of variants from LRS data with case examples including different disease mechanisms.
I've learned something new today!
What a wonderful educational session by Dr Bart Van der Sanden (Radbound UMC) on long read sequencing:
Technical interpretation of variants from LRS data with case examples including different disease mechanisms.
I've learned something new today!
May 25, 2025 at 3:42 PM
Very nice educational session on how to detect difficult variants on IGV with LRGS! #eshg2025
Reposted
Elfride de Baere talking about the role of UCNEs in retinal disorders #eshg2025
UCNEs:
-ultraconserved regions in the genome spanning>200bp
-4351 unique UCNEs
-active UCNE located upstream PAX6 gene
UCNEs:
-ultraconserved regions in the genome spanning>200bp
-4351 unique UCNEs
-active UCNE located upstream PAX6 gene
May 25, 2025 at 4:02 PM
Elfride de Baere talking about the role of UCNEs in retinal disorders #eshg2025
UCNEs:
-ultraconserved regions in the genome spanning>200bp
-4351 unique UCNEs
-active UCNE located upstream PAX6 gene
UCNEs:
-ultraconserved regions in the genome spanning>200bp
-4351 unique UCNEs
-active UCNE located upstream PAX6 gene
Reposted
I have been glued to @pilarcacheiro.bsky.social ‘s timeline for the last hour or so. Thank you for the digest! #eshg2025
Bluesky
pilarcacheiro.bsky.social
May 24, 2025 at 4:12 PM
I have been glued to @pilarcacheiro.bsky.social ‘s timeline for the last hour or so. Thank you for the digest! #eshg2025
Reposted
In Stat Gen session at #eshg2025 - first up Manuel Rivas omn unified metaregression models - taking moderators of mutation pathogenicity like constraint, LOF, missense, and structure prediction and making a metagression model 1/n
May 24, 2025 at 4:37 PM
In Stat Gen session at #eshg2025 - first up Manuel Rivas omn unified metaregression models - taking moderators of mutation pathogenicity like constraint, LOF, missense, and structure prediction and making a metagression model 1/n
Reposted
Big news for health data research and population diversity: The Mexico City Prospective Study data are now available securely to approved researchers worldwide. www.ndph.ox.ac.uk/news/latin-a...
Cohort description: www.ctsu.ox.ac.uk/research/pro...
Cohort description: www.ctsu.ox.ac.uk/research/pro...
Latin-American genetic data available securely to approved researchers worldwide/Datos genéticos latinoamericanos disponibles para investigadores de todo el mundo
www.ndph.ox.ac.uk
May 2, 2025 at 9:05 AM
Big news for health data research and population diversity: The Mexico City Prospective Study data are now available securely to approved researchers worldwide. www.ndph.ox.ac.uk/news/latin-a...
Cohort description: www.ctsu.ox.ac.uk/research/pro...
Cohort description: www.ctsu.ox.ac.uk/research/pro...
Reposted
Very excited to share our preprint led by M. Levin @skoyama.bsky.social J. Woerner & with S. Damrauer assessing genome-wide pleiotropy of >1,000 clinical traits across ~1.7M individuals with nearly 30K locus-trait associations!
www.medrxiv.org/content/10.1... @medrxivpreprint.bsky.social
www.medrxiv.org/content/10.1... @medrxivpreprint.bsky.social
April 23, 2025 at 11:35 AM
Very excited to share our preprint led by M. Levin @skoyama.bsky.social J. Woerner & with S. Damrauer assessing genome-wide pleiotropy of >1,000 clinical traits across ~1.7M individuals with nearly 30K locus-trait associations!
www.medrxiv.org/content/10.1... @medrxivpreprint.bsky.social
www.medrxiv.org/content/10.1... @medrxivpreprint.bsky.social
Reposted
📣📣 Thrilled to see this cool work finally out in the wild! "Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology & prediction" www.nature.com/articles/s41...
Loads of cool findings including MR for alcohol usage -> increased variance in BC traits
Loads of cool findings including MR for alcohol usage -> increased variance in BC traits
May 7, 2025 at 7:21 PM
📣📣 Thrilled to see this cool work finally out in the wild! "Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology & prediction" www.nature.com/articles/s41...
Loads of cool findings including MR for alcohol usage -> increased variance in BC traits
Loads of cool findings including MR for alcohol usage -> increased variance in BC traits
Reposted
I'm delighted to present our nationwide effort to identify genetic determinants of child health and development in Japan.
Preprint: www.medrxiv.org/content/10.1...
Preprint: www.medrxiv.org/content/10.1...
February 26, 2025 at 12:18 AM
I'm delighted to present our nationwide effort to identify genetic determinants of child health and development in Japan.
Preprint: www.medrxiv.org/content/10.1...
Preprint: www.medrxiv.org/content/10.1...
Reposted
#eshg2025 assorative mating gives long range LD - carried out interchromsomal phasing using relatives to construct maternal and paternal PRSs. Used UK Bioank to test in 270K slightly related individuals comparing it to pubmed.ncbi.nlm.nih.gov/30988446/ odd vs even chromsome prs method from Yengo
May 24, 2025 at 5:57 PM
#eshg2025 assorative mating gives long range LD - carried out interchromsomal phasing using relatives to construct maternal and paternal PRSs. Used UK Bioank to test in 270K slightly related individuals comparing it to pubmed.ncbi.nlm.nih.gov/30988446/ odd vs even chromsome prs method from Yengo
Reposted
Notable challenges posed by long-read sequencing for the study of transcriptional diversity and genome annotation genome.cshlp.org/content/35/4... 🧬🖥️🧪
April 15, 2025 at 6:30 PM
Notable challenges posed by long-read sequencing for the study of transcriptional diversity and genome annotation genome.cshlp.org/content/35/4... 🧬🖥️🧪
Reposted
The minda tool helps with SV benchmarking and merging by decomposing SVs into start and end records, supporting other types of SVs beyond primarily germine indels processed by truvari, SVanalyzer, SURVIVOR, Jasmine, etc. github.com/KolmogorovLa...
April 7, 2025 at 8:52 AM
The minda tool helps with SV benchmarking and merging by decomposing SVs into start and end records, supporting other types of SVs beyond primarily germine indels processed by truvari, SVanalyzer, SURVIVOR, Jasmine, etc. github.com/KolmogorovLa...