Mullighan #pacbioprism Now T-ALL a high-risk leukemia, less common. '17 Nat Genet nature.com/articles/ng.39… n=264 T-ALL, limited WGS, unable to ID all oncogenic drivers. "Needed to have a much more comprehensive approach" COG AALL0404, sequence all the induction failures...

Mullighan #pacbioprism Systematic Diagnostic, Relapse, Germline, scRNA, epigen, clinical data, age 0-29, 9.2% relapse, 9.9% induction failure. "The amount of non-coding alterations" remarkably high in T-ALL. Increasing difficult to resolve due to increasing complexity.

Stephanie Pond (VP TGen AZ) Sequencing by binding rivals error-corrected sequencing by synthesis technology for accurate detection of very minor (<0.1%) populations. #pacbioprism (Now onto Onso SBB.) Tomlins 2021: 30K samples, 50% had <25 mm2 tumor surface area, 11% <20% tumor %

Pond #pacbioprism Covers deep sequencing of TB PCR amplicons for MRD, looking for mutations in katG (isoniazid resistance), gyrA (fluoroquinones resistance). Showed 0.001% above WT w/o error correction. gyrA 0.1% LoD. This at 100K read coverage.

Greally #pacbioprism Loss of DNA methylation at a site, chr2 2018 Genome Res pubmed.ncbi.nlm.nih.gov/30093547/ The same locus via LR shown: Can resolve haplotypes first - can see het variants, and see loss of methylation and effect of SNP

Greally #pacbioprism For that SNP - rs11686156 - ancestral allele restors PU.1 (SPI1) transcription binding site. A function non-coding variant (fNCV). A post-GWAS approach to look at the regulatory landscape. eQTLs to point to real genetic risk being mediated.

Greally #pacbioprism Getting to cell subtype influences: DNA methylation haplotypes. Shows CEBPA locus, how at a local region can breathe - widen and narrow - depending on the cell type (ESCs, HSPCs, CD133+...) patterns in cis.

Greally #pacbioprism CEBPA locus with long reads in blood: shows the variation between B-cells and neutrophils. Looking at allele-spec methylation using a PacBio tool called methBAT.

Well said

Great news! 🎉 The deadline for ISPN Meeting Attendance Scholarships has been extended until May 13th. Don't miss this chance to join us at #ISPN2024 and contribute to the advancement of pediatric neurosurgery. Learn more: bit.ly/4dyLlpm

Selon MSSS, Il s’agit d’une augmentation de 36,5% de cadres depuis la pandémie plus élevée que l’augmentation du reste du personnel, qui était d’environ 15% pendant la même période. journaldemontreal.com/2024/05/10/voi… Ruba Ghazal FIQ Santé☝️Défi - Trouvez votre gestionnaire sur la liste.

Thrilled to see this announcement and looking forward to future impacts of this important work - Ambry Genetics and PacBio Announce Collaboration to Sequence Up to 7,000 Human Genomes Aimed at Providing Answers ... prn.to/3UZ2W2I

Come hear how to build high-quality genomic standards with the Platinum Pedigree and Long-read data! #ESHG2024 EichlerLab Aaron Quinlan Dr Harriet Dashnow David Porubsky Billy 🌹 Mike Eberle Egor Dolzhenko Fantastic OMICS session (June 4th): apps.m-anage.com/eshg2024/en-GB…

I understand imitation is the sincerest form of flattery, but as junior faculty it is frustrating when Oxford Nanopore copies the figures of your work verbatim without any credit. youtube.com/watch?v=1NkBr3… Figure 1: biorxiv.org/content/10.110… Figure 4: biorxiv.org/content/10.110…

Henry: T2T PacBio HiFi genome of mango without needing Hi-C or other tech …! #PRISMBangkok acsess.onlinelibrary.wiley.com/doi/full/10.10…

Analysis of 170 PacBio HiFi genomes identified 7000+ segmentation duplications (SD) that comprise 6.1% of the (T2T CHM13) genome. African genomes show higher copy number of multi-copy SDs. Comparing to Iso-Seq data finds 201 novel protein-coding gene in multicopy SDs.

The University of Miami team shares how #Revio accelerates future discoveries with its ease of use and scalability. With smooth installation, training, and bioinformatics support, they are excited to scale their research with our advanced technology. #WelcomeToTomorrow #PacBio

Detecting all types of de novo TR mutations (expansions, contractions, and compositional changes) within family trios improves precision and specificity reducing candidates by order of magnitude compared to genotype-based methods." 👇biorxiv.org/content/10.110…

We're thrilled #Revio was chosen to support the PRECISE initiative to generate the largest long-read #sequencing dataset in Southeast Asia. This partnership highlights the critical role of #PacBio HiFi sequencing in the evolution of precision medicine. bit.ly/4cj3CVU

biorxiv.org/content/10.110…