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...

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...

JL: HPRC to develop a new reference data structure and foster innovative ecosystem of pangenome tools. #ASHG25

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

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.

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....

Translon: a single term for translated regions. #Translation @natmethods.nature.com

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...

Rare disease testing by WGS & RNAseq. #eshg2025

Synonymous variants should not be discounted from analysis. They can still be part of a disease like the case Smitha Kumble presented. #eshg2025

Peter Robinson introducing some of my favourite tools : HPO, Exomiser, Phenopackets, GPSEA.

#ESHG2025

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.

📍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!

Very nice educational session on how to detect difficult variants on IGV with LRGS! #eshg2025

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

Learning about poison exons at their role in neurological disorders #eshg2025

I have been glued to @pilarcacheiro.bsky.social ‘s timeline for the last hour or so. Thank you for the digest! #eshg2025

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

Latin-American genetic data available securely to approved researchers worldwide/Datos genéticos latinoamericanos disponibles para investigadores de todo el mundo

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...

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

📣📣 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

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...

Steven McCarroll talking about repeat expansion in Huntington's at #ESHG2025. I remember being blown away by Bob Handsaker's talk on this at #ASHG2023. I really hope the next time I see this talked about it ends with plans for inhibition trials in humans.

#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

Notable challenges posed by long-read sequencing for the study of transcriptional diversity and genome annotation genome.cshlp.org/content/35/4... 🧬🖥️🧪

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...

LoVis4u: a locus visualization tool for comparative genomics and coverage profiles Abstract. Comparative genomic analysis often involves visualization of alignments of genomic loci. While several software tools are available for this task

Excited to share that our paper on locus visualisation tool LoVis4u is out! Entirely driven by fantastic PhD student Artyom Egorov @egorov.bsky.social academic.oup.com/nargab/artic...

2 important papers @nature.com today indicate the potential for A.I. to improve diagnostic accuracy and overall clinical performance for patient management and interactions
nature.com/articles/s41...

Anyone with experience accessing/using the data?

📊Access is applied here: humanphenotypeproject.org/data-access

🔗link to paper: nature.com/articles/s41...

Phenome-wide associations of sleep characteristics in the Human Phenotype Project - Nature Medicine In the Human Phenotype Project, home sleep apnea testing data were collected for a total of 16,812 nights in 6366 individuals, allowing for a comprehensive study of the association of sleep traits wit...

Fixed link www.nature.com/articles/s41...

Happy to share our manuscript “Unified meta regression models for rare variant association studies”

www.biorxiv.org/content/10.1...