RT @TimCoorens: The cells in our bodies constantly acquire mutations. But what are the patterns of mutations across tissues? How do mutatio….

RT @genomeresearch: Call for Papers! @genomeresearch is now encouraging submissions for a Special Issue on The Genetics and Genomics of Som….

RT @nyugrossman: A new Ultra-Rapid droplet digital PCR developed by @giladevrony & @DanOrringerMD at @nyulangone may help surgeons detect c….

Congrats to first author Ben Harrison (Rockefeller), and also to Emma Mizrahi-Powell (NYU). See also the concurrent paper by Kuehl, et al. on this new syndrome:

Just published--a new Fanconi anemia syndrome caused by variants in FAAP100 (FANCX)--a wonderful collaboration between our NYU Undiagnosed Diseases Program, the Smogorzewska lab (Rockefeller; @MaintainGenome) and Bruce Gelb and Cassie Mintz (Mount Sinai).

See also two awesome recent sperm sequencing studies from @R_Rahbari and @aaronquinlan.

Kudos to @Amoolya1199, @CaitLoh, and @meihliu from my lab for their years of work on this, and huge thanks to the research participants, our collaborators, and our funders.

Happy to see our new paper out! A great collaboration with @jeshoag. We collected sequential sperm samples separated by decades, and used high-fidelity sequencing to measure germline mutation rates in individual men.

@MedCellPress @DanOrringerMD @ZacharyR_Murphy Non-paywalled link:

Our paper on Ultra-Rapid ddPCR (15 min tissue to result somatic mutation quantification) is now in @MedCellPress. A wonderful collaboration with @DanOrringerMD that succeeded because of the intrepid work of @ZacharyR_Murphy, Emilia Bianchini, and the team.

RT @waitbutwhy: Writing the Fermi Paradox chapter of the book and man that topic just never gets old. Double the length of my 2014 post an….

RT @nyulangone: Excited to see NYU Langone Health researcher @giladevrony's recent @Nature study highlighted in @NIHDirector's latest blog….

RT @stergachislab: Thrilled to share the culmination of 4 years of #Fiberseq research enabling the accurate quantification of chromatin acc….

And here's a non-paywalled PDF link:

We show some new findings since the pre-print, including APOBEC3A's ssDNA cytosine deamination pattern and detection of SBS1 precursor lesions. See our pre-print thread for more info: Congrats to co-authors and thanks to our funders!.

Now out @Nature, our paper on HiDEF-seq: single-molecule DNA sequencing that resolves single-strand changes (mismatches and damage)!

@DanOrringerMD See also, the tweet from first author @ZacharyR_Murphy.

We also combined Ultra-Rapid ddPCR with @DanOrringerMD's Ultra-Rapid stimulated Raman histology. Many thanks to all who contributed to this project and our funders. We hope Ultra-Rapid ddPCR enables new kinds of point-of-care diagnostics and molecularly-guided surgeries. 5/5.

We then brought Ultra-Rapid ddPCR into the operating room in brain tumor (glioma) surgeries, with measurements concordant with standard ddPCR. 4/5

We wondered: what is the fastest possible we can measure the level (mosaicism) of a somatic mutation?. Zachary Murphy and Emilia Bianchini in the lab optimized every step, achieving DNA extraction in < 5 mins and thermal cycling < 3 mins!.3/5