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New work on #Cancer variant prioritization using #T2T . It helps & we can overcome variant annotation issues! + An updated somatic SV benchmark for COLO829/COLO829BL across 4 replicates Grch38 +T2T! New preprint: medrxiv.org/content/10.110… Luis Paulin, PhD BCM HGSC Kieran O'Neill etc!

New Sniffles (SV caller for PacBio & Oxford Nanopore ) version public github.com/fritzsedlazeck… . . Improvements on sample merging & smaller issues. Going forward more consistent releases to come and thanks everyone for reporting issues! Luis Paulin, PhD BCM HGSC BCMHouston Rice Computer Science

Happy #DNADay! 🧬 This is one of my favourite pieces I made for Scientific American about genome sizes across select species. Was really fun to make this! #science #DNA #genome #infographic #sciart #genomics #genetics #genes

Two great medRxiv demonstrating the utility of #T2T genome on #cancer and #RareDiseases . Great collaborations ! medrxiv.org/content/10.110… medrxiv.org/content/10.110… BCM HGSC Rice Computer Science Pacific Northwest Research Institute @BCCancer_GSC Karolinska Institutet Anna Lindstrand Luis Paulin, PhD Claudia M Carvalho

.Benjamin Atha from SEQanswers takes a look at the great advances in sequencing tools coming from Dr Fritz Fritz Sedlazeck and his team at BCM HGSC. PacBio Illumina Oxford Nanopore Luis Paulin, PhD Sairam Behera Michal Izydorczyk Medhat Mahmoud Christopher M. Grochowski, PhD Moritz Smolka seqanswers.com/articles/32571…

"one laboratory stands out due to its impressive output and continual contributions" - well said SEQanswers, I completely agree! Continue the awesome science! Fritz Sedlazeck Medhat Mahmoud Sairam Behera Luis Paulin, PhD Sairam Behera Michal Izydorczyk BCM HGSC

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Check out the new publication in Cell Genomics by Christopher M. Grochowski, PhD Claudia M Carvalho LupskiLab Fritz Sedlazeck et al BCM HGSC BCMHouston BCM Department of Molecular and Human Genetics GREGoR Consortium cell.com/cell-genomics/…

Depressed by short SNV phasing? Extend it with MethPhaser that utilizes methylation to extend phasing through homozygous regions using Oxford Nanopore reads. Nature Communications : nature.com/articles/s4146… Congrats to Yilei Fu Sergey Aganezov Medhat Mahmoud Todd J Treangen Rice Computer Science BCM HGSC

Amazing work by Christopher M. Grochowski, PhD & Claudia M Carvalho about complex SV(DUP-TRP/INV-DUP) in Cell Genomics cell.com/cell-genomics/… 18/24 patient alleles resolved using Illumina Oxford Nanopore PacBio Bionano & Strand-Seq. BCM HGSC Luis Paulin, PhD Medhat Mahmoud BCM Department of Molecular and Human Genetics Pacific Northwest Research Institute

❓Interested in Structural Variants❓ There are still a few seats available for the course "Structural Variant detection and comparison" with Fritz Sedlazeck and Luis Paulin, PhD in December. For more information, please check it out: physalia-courses.org/courses-worksh…

Physalia-courses@ONLINE Luis Paulin, PhD Very much looking forward to this! We have a couple of new tricks/approaches to teach everyone on handling SV from single sample to population levels!

Excited to see this finally published! Our latest work demonstrates how @Illumina short-read WGS data can resolve LPA KIV-2 repeat units, which is very significant for studying cardiovascular disease risks bmcmedgenomics.biomedcentral.com/articles/10.11… Fritz Sedlazeck Medhat Mahmoud Luis Paulin, PhD BCM HGSC

On Thursday I will be presenting our latest results on #mosaicSV detection with Sniffles at #ASHG2024 Come and join the Human Genetic Mosaicism Feat. Symposium

Tomorrow I will be presenting at #ASHG2024 the latest and greatest of #mosaicSV detection with #Sniffles2 Room 505 8am

Luis Paulin on detection of mosaics structural variation with Sniffles2 #ASHG24

Sniffles2 Luis Paulin, PhD detects mosaic SVs with Alu insertions compared to short read sequencing. Time for long read sequencing to better identify these difficult variants! #ASHG24

Excellent talk this morning from Luis Paulin, PhD showcasing Sniffles mosaic for calling mosaic variants in brain tissue, validated by PCR 🧬🧠 #ASHG2024

So great to see Luis Paulin, PhD show cool results from one of our collaborations with Fritz Sedlazeck lab at #ASHG2024 #ASHG24 even though i couldn't make it there this year!

New from the lab with Fritz Sedlazeck. Brilliant analysis by ⁦Michal Izydorczyk⁩ of long read ⁦Oxford Nanopore⁩ WGS from single human brain cells, after droplet MDA amplification in the Samplix X-drop. Funded by ⁦Aligning Science Across Parkinson’s⁩ ⁦UCL Queen Square Institute of Neurology⁩ medrxiv.org/content/10.110…