Nabsys: Snow or rain in the forecast? We’ve got you covered - literally. Stop by our booth #2007 and grab an umbrella before heading out!
👉 Visit us on the trade show floor or book a meeting with us: hubs.ly/Q046BKDj0
#ACMG #ACMG26 #ACMGMtg26 #GenomicResearch #EGM
This would be a crime against humanity, but otherwise I agree.
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> @covie93.bsky.social
will be back at same site in Orlando next year, March 1-4, 2027
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Beth Shapiro and Len Pennacchio to make closing remarks.
That's it! Thanks for coming. Any feedback?
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JO: DIstinct genomic compartmentalization of hypo- and hyper-methylation in cancer. Tumors share methylation states across distinct lineages. May be able to subtype cancers, use for liquid biopsy for tumor origin, identify cancer specific regulatory alterations
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JO: Are there conserved methylation across cancers or cancer-type profiles? Contaminating cell types can obscure patterns. Can deconvolve cell types.
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JO: see focal hypermethylation and global hypomethylation.
Cancer atlas has data on 450K sites, only 1-2% fo methylome. Can now do whole methyome. Looked at 106 tumors from 21 cancer types
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James Occean from Stanford will discuss whole genome profiling DNA methylation in primary tumors. Epigenetic alterations extensive in cancer
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YM: longer reads can be better assigned to maternal/paternal allele to see imprinting
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YM: use 5' kit and do long read 1. See extra cap G not genomically encoded in reads if goes all the way to 5' end. Do not see with premature termination to remove noise. See major start site but can also now see minor start sites previously hidden in noise
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Yasuhiro Murakawa from Kyoto talking about spatial transcriptomics technology for transcription start site profiling
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JB: another patient has main outlier at AS3MT, implicated in broad set of neuropsychiatric disorders. Depletion leads to increase in nerve, brain and muscle transcripts
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JB: Use CRISPR guides to remove highly expressed RNA. 400,000 guides made. See highly expressed genes go down, poorly expressed go up. Uncover novel splice sites as in KCNJ6 only identified in depletion
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JB: Of those with rare disease tested, 25-50% get a causal variant. RNAseq used to help interpret DNA mutations
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Jon Bezney from Stanford will talk about rare disease diagnostics especially using RNAseq
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EK: you can sign up your pet for pets on the ark. Free to sign up, $150 if want to have sequenced
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EK: Are cats domestic? Yes, 4000 yrs ago: Evolution in response to an anthropogenic niche. A domestic population requires acces to that niche.
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EK: Panagram counts kmers to compare genomes. very fast way to compare similarity. Highly correlated with Minimap
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EK: Can see trait effects on GWAS Howling associated with SCN3A. See many loci associated dog height. Very heretible.
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EK: 80% of current dogs are free roaming, living off human garbage just like 20,000 years ago. Dog breeds are only 150 years old. (Dirty secret: EK has never owned a dog). Behavioral traits are not fixed in breeds. Variability within breeds exceeds variability across breeds.
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Elinor Karlsson from UMass Med will talk about pet genomics due to ability to do longitudinal studies, detailed phenotypes, large populations and people love to tell you about their dogs
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JB: Transcription does not restart after mitosis in RanGAP1 depleted nuclei. After first indiscriminate folding program, get second folding program. Without second program, TADs and Cohesin-mediated loops do not form
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JD: Folded state of genome is the sum of many different processes working simultaneously. Driven solely by chromosome-intrinsic factors. See indiscriminate clustering of small active domains (cell type specific)
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JD: chromosome folding very different in interphase vs mitotic cell. Compartmentalizaiton: Hetero- and eu- chromatin spatially segregated. Chromatin looping: fast looping of DNA
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Job Dekker from UMass Med to talk on mitotic inheritance of chromosome folding programs. Battle in all your cells between protein machines to organize mitotic chromosomes.
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Tim Steiert form Kiel Inst Clinical Molec Biol. Trying to get more accurate blood genotyping. RHD/RHCE are too homologous to distinguish easily. Using constellation, Pacbio, and ONT to look at neighboring regions
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Huy Nguyen (Bruker) look at glioblastoma tissue with 419 plex paintscape panel. Look for LOH in chr10. Looked at MET gene region with OncoPaint panel, can see MET amplification
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Robert Sebra (mount Sinai) high grade serous ovarian cancer metastasis through single cell and spatial profiling. Look at median entropy. stratifies epithelial cells
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Michal Lipinski (Broad) peripubal testis development profiled using spatial tech. Looked at how cells interact with neighbors.
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