Pub Snips 🔬

Antibody based targeting of CRISPR-Cas9 containing particles for cell type specific and potentially in vivo genome editing biorxiv.org/content/10.1101/… @biorxivpreprint

SP140 is an immune-restricted PHD and bromodomain-containing epigenetic reader and topoisomerase inhibitor that maintains heterochromatin for proper macrophage fate and function cell.com/cell/fulltext/S0092… @CellCellPress

GTSF1 is an auxiliary protein that potentiates the weak, intrinsic, piRNA-directed RNA cleavage activities of PIWI proteins nature.com/articles/s41586-0… @Nature

cis-RNA editing QTLs (edQTLs) are associated with common inflammatory conditions and reduced editing by ADAR1 contributes to inflammatory disease risk nature.com/articles/s41586-0… @Nature

Generation of iPSC-derived microglia and use of a CRISPRi screening platform to identify genes involved in survival, phagocytosis, etc - microglia-like cells secrete cytokines, can be cocultured with iPSC-derived neurons nature.com/articles/s41593-0… @NatureNeuro

Common non-synonymous SNPS in the serotonin receptor gene 5-HT2AR modestly, but significantly, affect psychedelic efficacy and potency... enter psychedelic pharmacogenomics pubs.acs.org/doi/10.1021/acs…

ADAR1 prevents autoimmunity through A-to-I editing of endogenous Alu RNAs and preventing activation of the Z-nucleic acid sensor ZBP1, a mechanism for Aicardi–Goutieres syndrome nature.com/articles/s41586-0… nature.com/articles/s41586-0… nature.com/articles/s41586-0… @Nature

150,119 genomes in the UK Biobank, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% of all possible human single-nucleotide polymorphisms, and 58,707,036 indels nature.com/articles/s41586-0… @Nature

Intermittent fasting promotes axonal regeneration after sciatic nerve crush in mice through gram-positive gut microbiome and serum metabolite indole-3-propionic acid (IPA) nature.com/articles/s41586-0… @Nature

Over half of KCNH2 "hot spot" exon 2 variants have no functional effect and a massively parallel trafficking assay predicts functional effects better than REVEL and bioinformatics tools cell.com/ajhg/fulltext/S0002… @AJHGNews

Clinical Variant Analysis Tool (CVAT) helps standardize clinical interpretation of genomic variation for better collaboration and more transparent reporting gimjournal.org/article/S1098… @GIMJournal

DPH5 homozygous and heterozygous missense and frameshift variants are associated with craniofacial abnormalities, multisystem dysfunction, miscarriage and severe neurodevelopmental delays gimjournal.org/article/S1098… @GIMJournal @UDNconnect

Host variation in IL10RB, PLSCR1, BCL11A, FUT2, ATP11A, MUC1, SELE, ICAM5, CD209, F8 predispose to more severe COVID illness nature.com/articles/s41586-0… @Nature

Most enhancers activate all promoters in a similar amount - intrinsic enhancer and promoter activities multiplicatively combine to determine RNA output - housekeeping gene promoters have intrinsic motifs to decrease responsiveness nature.com/articles/s41586-0… @Nature

During sleep, circulating tumour cells (CTCs) are stimulated by circadian rhythm hormones such as melatonin, testosterone and glucocorticoids for increased metastasis potential nature.com/articles/s41586-0… @Nature

Persistently elevated CCL11 and the hippocampus may be key in the pathology of long COVID neurologic symptoms cell.com/cell/fulltext/S0092… @CellCellPress

If you needed a reminder, we need larger ethnicity-specific genomic datasets @QatarGenome @medrxivpreprint medrxiv.org/content/10.1101/…

Background nonsynonymous variants (mostly in chaperonin-encoding genes) are in trans and contribute to the recessive Mendelian disorder Bardet–Biedl syndrome (BBS) - we're all looking for a "second hit"! nature.com/articles/s41588-0… @NatureGenet

Long #reads likely won't save us; long read specific deletion #detection is mostly in dups/repeats, other deletions are highly concordant with #short read data, largest benefit will likely come from #insertion detection biorxiv.org/content/10.1101/… @biorxivpreprint

Posterior fossa A #ependymomas initiate from a first trimester cell lineage that has restricted #oxygen, with lack of #histone methylation, possible #metabolic and #epigenetic #drug targets cell.com/cell/fulltext/S0092… @CellCellPress