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New release of NGMLR (v0.2.7) our long read mapper for improved variant detection for @Pacbio and Oxford Nanopore. github.com/philres/ngmlr Philipp Rescheneder. Improved handling of smaller dups, Support for read groups, etc. get it while its hot :)

We knew scientifically this was going to be important work, but took on deep personal meaning last fall when my wife was diagnosed. Happy to say after months of surgery, chemo, and radiation she is through the worst and is living life to the fullest now genome.cshlp.org/content/28/8/1…

nature.com/articles/s4155… implications and connection to williams syndrome are really interesting there.

Search-and-replace genome editing without double-strand breaks or donor DNA nature.com/articles/s4158…

Ubiquitous T-cell cancer targeting via MR1 nature.com/articles/s4159…

After a successful launch at 3:22 p.m. ET, SpaceX's Crew Dragon spacecraft with Liam and Col. Doug Hurley onboard is on its way to the International Space Station. Docking will occur May 31 at 10:29 a.m. ET: nasa.gov/live

starting our #hackathon BCM HGSC now! Exciting to come together (80 people) from almost around the world! Looking forward to hack on SV, pangenomics etc. Thx to : DNAnexus, Inc. PacBio Oxford Nanopore #everyone_is_awesome

Richard Gibbs giving a great Keynote at our #hackathon BCM HGSC about the importance of hacking and exploring #genomic . From human genome project to current projects of BCMHouston. "There are tremendous opportunities for our future! " Guess who that is.. :)

Human Genome Sequencing Center expands worldwide in virtual format bcmfamily.bcm.edu/2020/11/02/hgs…

Happy to see our #Bioinformatics hackathon manuscript out: f1000research.com/articles/10-24… Great teamwork (~80 international participants) and stay tuned for the upcoming event (fall 2021)! Many new tools around SV+ #COVID19 BCM HGSC From the Labs at Baylor College of Medicine DNAnexus, Inc. F1000Research

Multifaceted project, enabled by FWF, Neuro Stem Modulation - SFB F78, European Research Council (ERC), Universität Wien, Vienna BioCenter @maxperutzlabs. Thanks to Rob Lucas & team @DNEP_UoM, Max Hofbauer loopbio quantitative biology, all co-authors, and eLife - the journal for a highly constructive reviewing process! bit.ly/3zcOy9x

Excited to present our work (Moritz Smolka) on new Sniffles at #PAGXXIX #Bioinformatics workshop today! Many new exciting features & performance improvements for SV calling on PacBio Oxford Nanopore. From mosaic to population SV calling modes! Early code release & preprint soon! BCM HGSC

Please RT: Happy to release Sniffles v2 with Moritz Smolka! We improved SV calling for accuracy+ speed. Solving population/family calling (~gVCF SV implementation)& calling mosaic SV over bulk LR data. Preprint soon BCM HGSC #Bioinformatics Oxford Nanopore PacBio github.com/fritzsedlazeck…

Nice work with Moritz Smolka && . Sniffles v2 for SV detection on @Pacbio & Oxford Nanopore. Improvements in speed and accuracy. We also solved the N+1 problem for population VCF files for SV and can identify mosaic SV. available at github.com/fritzsedlazeck… & conda biorxiv.org/content/10.110…

science.orf.at/stories/322292…

#Livechat: Michael Schatz is our latest #BloombergProf. He and Denis Wirtz will #Periscope today at 1pm. Join us!

Postdoc opportunity in my lab in 🌞 Arizona. Please RT. x.com/evoldir/status…

Enhanced mapping + SV calling using Pacbio/Nanopore? Higher sensitivity, low FDR in plants, humans.. Check out poster: POA-215 #SMBE17 Follow us @Shop6pm!

Accurate detection of complex structural variations using single molecule sequencing with Fritz Sedlazeck Philipp Rescheneder et al biorxiv.org/content/early/…

New paper in press today at Nature Reviews Genetics: Piercing the dark matter: bioinformatics of long-range sequencing and mapping rdcu.be/J8Ib. Summarizes all the major ways long reads, linked reads, HiC and Optical Mapping are being used to advance genomics