Discover and read the best of Twitter Threads about #germline
Most recents (4)
Excited to announce my first first-author publication (ever!) from my PhD is now online!!!! Co-first author with the amazing @Rafiqi51. Directed by @ehab_abouheif The Great @AbouheifLab. @BioMcGill @mcgillu @EvoDevoPanAm Want to know more? [A THREAD]
nature.com/articles/s4158… 1/n
nature.com/articles/s4158… 1/n
We sought to understand the origin and elaboration of the #obligate #endosymbiosis between the #bacteria #Blochmannia and the #ant tribe #Camponotini #MajorEvolutionaryTransitions #EcoEvoDevo. @evodevo_papers @the_Node @Dev_Bio_Journal @MyrmecolNews 2/n 
Developmental biology textbooks were of no use when the #segmentationhierarchy was #shook with #hoxgenes unleashed and the #fusion of highly conserved gene regulatory networks! #2germlines and an #embryo that gives humpty dumpty a run for his money. #CamponotusFloridanus 3/n
We’re excited to share our newest publication @nature. With #scRNAseq we investigated 10 key #epigenetic regulators in #embryogenesis. Interesting early task for #Polycomb! Meissner lab @MPI_MolGen & @HSCRB /w @helenekretzmer & Zachary D. Smith (1/13) nature.com/articles/s4158…
What is normal in #devbio? First, we generated a single-cell reference of WT mouse #gastrulation and early organogenesis to which we later compared mutant phenotypes. We identified 42 embryonic and extraembryonic cell states and placed them in a lineage tree. (2/13)
Our WT reference is time-resolved covering #embryo stages E6.5-8.5. Variation is information: We pooled multiple embryos with unique SNP profiles per single-cell experiment; cell-to-embryo assignment is possible from scRNA data. (3/13)
Here's what seems clear from the #ASCO2020 abstracts on tumor-normal (#germline) sequencing of #cancer patients:
(1) A significant minority of cancer patients (5-15%) harbor clinically-actionable variants, such as those indicating PARP inhibition or immunotherapy use.
(1) A significant minority of cancer patients (5-15%) harbor clinically-actionable variants, such as those indicating PARP inhibition or immunotherapy use.
(2) More patients will benefit if we broaden gene panels. However, it's vital to control for incidental findings and variants of unknown significance (VUSs). This may require highly scalable, space-age variant interpretation that lives on the frontier of clinical research.
(3) Point-of-core tumor-normal testing isn't going to cut it. There are challenges with turnaround time, scalability, clinician education, discordant variant interpretation, and high cost. Germline guesswork from tumor tissue is shaky and likely not the solution to this issue.
(1/5) The molecular #diagnostic industry (MolDx) historically has been highly commoditized with limited differentiation between providers. We think next-gen #sequencing (NGS) and machine learning have forced a new, competitive paradigm on the MolDx space.
(Short Thread)
(Short Thread)
(2/5) NGS-powered diagnostics have complex workflows with numerous inefficiencies involved in upstream sample prep and downstream #bioinformatics. We believe MolDx providers can mitigate these inefficiencies through R&D spend.
(3/5) Within the MolDx space, we consider R&D to be an asset instead of just an operating expense. R&D dollars may produce novel products, patents on intellectual property, and cost-of-goods-sold (COGS) reductions.
(See Chart Below)
(See Chart Below)
