Moritz Smolka

Nice work with @smolkmo && . Sniffles v2 for SV detection on @Pacbio & @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…

@holtjma @sedlazeck @BCM_HGSC @nanopore @PacBio Also available as Python package on pypi (e.g. pip install sniffles) pypi.org/project/sniffl…

@sedlazeck @smolkmo @BCM_HGSC @nanopore @PacBio Looking forward to trying this! Do you have any timeline on conda availability?

Please RT: Happy to release Sniffles v2 with @smolkmo! 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 @nanopore @PacBio github.com/fritzsedlazeck…

Excited to present our work (@smolkmo) on new Sniffles at #PAGXXIX #Bioinformatics workshop today! Many new exciting features & performance improvements for SV calling on @PacBio @nanopore. From mosaic to population SV calling modes! Early code release & preprint soon! @BCM_HGSC

Multifaceted project, enabled by @FWF_at, @NeuroStemMod, @ERC_Research, @univienna, @viennabiocenter @maxperutzlabs. Thanks to Rob Lucas & team @DNEP_UoM, Max Hofbauer @loopbiogmbh, all co-authors, and @eLife for a highly constructive reviewing process! bit.ly/3zcOy9x

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 @BCMFromtheLabs @dnanexus @F1000Research

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

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.. :)

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 @PacBio @nanopore #everyone_is_awesome

After a successful launch at 3:22 p.m. ET, @SpaceX's Crew Dragon spacecraft with @AstroBehnken and @Astro_Doug onboard is on its way to the @Space_Station. Docking will occur May 31 at 10:29 a.m. ET: nasa.gov/live

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

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

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

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…

New release of NGMLR (v0.2.7) our long read mapper for improved variant detection for @Pacbio and @nanopore. github.com/philres/ngmlr @philres1. Improved handling of smaller dups, Support for read groups, etc. get it while its hot :)

New paper in press today at @NatureRevGenet: 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

Accurate detection of complex structural variations using single molecule sequencing with @sedlazeck @philres1 et al biorxiv.org/content/early/…

Enhanced mapping + SV calling using Pacbio/Nanopore? Higher sensitivity, low FDR in plants, humans.. Check out poster: POA-215 #SMBE17 @6pm

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