Sairam Behera

@doctorveera Best wishes!!

Today is my last day at Regeneron Genetics Center. Immensely grateful for the science, the people, and the privilege of helping turn human genetics into medicine. Closing this chapter with gratitude. Beginning the next one closer to home 🇮🇳 More soon.

delighted to have collaborated again with @sedlazeck , helping advance somatic mutation calling using samples from @UCLIoN @QSBrainBank , with thanks to @MSAtrust

New pre-print alert! We present our work on low-VAF mosaic variant detection, including genome-wide benchmarking, analyses across multiple tissues, use of personalized pangenome references, and mosaic calling at scale using DRAGEN @sedlazeck @MichalIzydorcz1 @illumina @BCM_HGSC

@theNASciences @szintri @UNLincoln @FoundationFAR Congratulations 👏🎉

Congratulations to James C. Schnable (@szintri) of @UNLincoln, winner of the 2026 NAS Prize in Food and Agriculture Sciences for breakthroughs in plant genomics and quantitative #genetics that are reshaping modern agriculture! nasonline.org/award/nas-priz… #NASaward @FoundationFAR

New in @Nature! “GREGoR: Accelerating Genomics for Rare Diseases” highlights how the GREGoR Consortium is advancing rare disease discovery through data sharing, multi-omics, and next-gen sequencing across 7,500 individuals in 3,000+ families. 🧬nature.com/articles/s4158…

plsRT: Looking for a motivated postdoc! Join us at @BCM_HGSC to explore the mosaic & somatic landscape of the human genome: structural variants, methylation, and all things @SMaHTnetwork If you like long reads, complex variants & methylation come talk to me! #Genomics #postdoc

@szintri Thanks! I never used any non-illumina short reads for DeepVariant. I actually know someone at Sention who partnered with Ultima and also did lots of benchmarking

@srbehera11 Need to dig/test a bit more, but I think that might be exactly what I was looking for. Thank you, Sairam!

Can anyone point me to a publicly available DeepVariant model trained to work with Ultima sequencing reads? Very different error profile from Illumina.

@strokelab Thanks!

@srbehera11 9150T

If anyone I know on here is at ASHG25, pop by my poster on Thursday at 2.30pm to say hi!!

@szintri So you watched "Chupke Chupke" last weekend? 😀

If I ever go to India I'm going to have business cards printed up that list my title as "ghaas-phoos ka doctor."

@sedlazeck Congrats!! Just saw this after being on vacation.

Stayed offline too long.. Several key papers came out (thanks to my group & great collaborators), thankful for great consortia meetings, might have a position in my lab opening, new lab homepage: fritzsedlazeck.github.io oh and got tenured (I know perfect timing ;)). Thanks all

@cgihou I am trying to update my daughter's (<20 yr) new passport info in her OCI using the online portal, but it keeps showing an error: "Applicant signature should be only jpeg/jpg file," even though I am uploading a JPEG (attached). Kindly advise. @MEAIndia @DrSJaishankar

We summarized state-of-the-art computational methods for DNA methylation analysis using long-read sequencing, covering everything from base calling to sample-level, cell-type-level, and even population-scale analysis. Huge Thanks to @sedlazeck and @timp0 for this great work!

The new issue of @genomeresearch is now live! Follow the link to new research on mitochondrial–nuclear gene expression regulation, guppy Y Chromosome genomics, and more! tinyurl.com/Genome-Res-35-3

It’s been a tough few weeks. My 10yo daughter was diagnosed with a very rare, aggressive cancer called interdigitating dendritic cell sarcoma (IDCS). I’m reaching out to identify clinicians/patients who have encountered pediatric IDCS, indeterminate dendritic cell histiocytosis or other (non-LCH) histiocytic sarcomas cases. I'm trying to understand non-surgical chemo and targeted therapy options, new pathology markers to better diagnose subtypes/treatments, and any data on progression in pediatric patients. Please feel free to share – I’m trying to cast a wide net due to the rarity of this condition and how little is known. People can contact me directly at my first name (as written in my profile) at octant.bio.

Our first curated draft somatic structural variant benchmark for the new GIAB PDAC tumor cell line HG008-T is at ftp-trace.ncbi.nlm.nih.gov/ReferenceSampl…, based on extensive short+long read sequencing data described in doi.org/10.1101/2024.0…. Feedback to improve future versions is very welcome!

@get_grace_ @nih_nhlbi @egatkinson @evolvingmonkey @sedlazeck congratulations!

The Long-read sequencing Special Issue is now LIVE! Guest-edited by @ahoischen, @sedlazeck, and @anaconesa!

Luis Paulin on detection of mosaics structural variation with Sniffles2 #ASHG24