Using the linear references from the pangenome to discover missing autism variants - Nature Communications Large-effect variants in autism remain elusive. Here, the authors use long-read sequencing to assemble phased genomes for 189 individuals, identifying pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, plus nine candidate structural variants missed by short-read methods.

Long‑read, phased genomes from 189 individuals reveal autism‑associated pathogenic variants, including complex SVs missed by short reads. Highlights variants in TBL1XR1, MECP2 & SYNGAP1. @uwgenome.bsky.social @humanpangenome.bsky.social #LongReadSequencing #StructuralVariants #AutismResearch

Hannah

We are delighted to welcome Hannah to our group. She will conduct long-read sequencing to explore plant genomes. We are excited to have her on board and look forward to amazing discoveries ahead!

www.izmb.uni-bonn.de/en/pbb/team

#PlantGenomics #LongReadSequencing #Bioinformatics #Nanopore

Work from the #DukeMGC will be on display at #AGBT2026:

Tuesday 1:30-3:30, poster #401

Wednesday 4:45-6:15, poster #472

Come find us to chat about our data! 🧬

#AGBT #SpatialTranscriptomics #SingleCell #Benchmarking #LongReadSequencing

We can't wait to see you in Valencia this summer at VALT! Check out our exciting Line up of speakers below. Interested in sharing your work on #LongReadTranscriptomics ? Abstract submission deadline 📅 March 31st.
#LongTREC #LongReadSequencing #Nanopore #Pacbio

Sarcomeric remodelling in human #HeartFailure unraveled by single molecule #LongReadSequencing

By J. Haas, B. Meder & colleagues @uniheidelberg.bsky.social

Catch 4 presentations featuring HiFi data at #FOG2026 on Jan 28 with Anna Lindstrand, @robpitceathly.bsky.social, @whaerty.bsky.social, and @adameur.bsky.social. Learn how #LongReadSequencing is enabling diagnostics and uncovering new therapeutic opportunities.

Full details here: bit.ly/3MAm7y1

Learn from experts in long-read sequencing with our on-demand webinar: "Maximizing Genomic Insights." Explore how advanced sequencing reveals complex genetic regions.

Watch now: https://bit.ly/41ABgF2

#LongReadSequencing #Genomics #StructuralVariants #ResearchInnovation #GenomicsInsights

🌟...let's meet the next #earlycareerresearcher #ECR #postdoc with a big heart for functional genomics 🧬
🥁 ... Dr RICARDO DE PAOLI-ISEPPI from @unimelb.bsky.social #UniMelb will tell us how he uses #longreadsequencing to understand #RNAsplicing.

Explore how long-read sequencing advances polyploid and large genome assembly in plants. Gain insights into polyploid evolution, gene duplication, and genetic diversity.

Read more: https://bit.ly/3VJkqjs

#PolyploidGenomics #LongReadSequencing #PlantGenomics #GenomeAssembly #Agrigenomics

Researchers establish a full-length #gallbladder #transcriptome atlas using #LongReadSequencing and identify ERBB2 i14e as a novel isoform driving #TumorGrowth and trastuzumab resistance. #ERBB2 #antisense #medsky

#OpenAccess in #STTT: doi.org/10.1038/s413...

Discover how long-read sequencing is advancing microbial genomics. Gain insights into genome structure, complex variations, and applications in microbiome and pathogen research.

Read more: https://bit.ly/49FQ9rD

#MicrobialGenomics #LongReadSequencing #MicrobiomeResearch #Genomics #Innovation

Discover how HiFi sequencing and Kinnex solutions deliver comprehensive genomic insights in our on-demand webinar: "Innovations in Genomics."

Watch here: https://bit.ly/42nBApp

#HiFiSequencing #Genomics #LongReadSequencing #Transcriptomics #Innovation

PacBio、韓国パンゲノム国家計画の中核技術に採用—1,000超の韓国人ゲノムをHiFi解析 | STELLANEWS.LIFE PacBioは、韓国国立保健研究院が主導するパンゲノム国家計画でHiFiシーケンス技術を提供。1,000以上の韓国人ゲノムを解読し、国際HPRCとの統合を目指す。

PacBio’s HiFi sequencing selected as the core platform for South Korea’s National Pangenome Project
stellanews.life/technology_c...

#PacBio #HiFiSequencing #Pangenome #Genomics #HPRC #KoreanGenome #PrecisionMedicine #LongReadSequencing #Kinnex #CiFi #Bioinformatics #NationalGenomics

Explore how long-read sequencing is revolutionizing agricultural genomics. Uncover detailed insights into complex genomes and structural variations for crop and livestock advancements.

Read more: https://bit.ly/3ZKx7Mg

#Agrigenomics #LongReadSequencing #Genomics #CropResearch #LivestockGenomics

Our paper was included in the Collection "Microbial Genomics of Eukaryotes" from the @microbiologysociety.org 🧬 😁

#genomics #longreadsequencing

www.microbiologyresearch.org/content/micr...

Learn from experts in long-read sequencing with our on-demand webinar: "Maximizing Genomic Insights." Explore how advanced sequencing reveals complex genetic regions.

Watch now: https://bit.ly/41ABgF2

#LongReadSequencing #Genomics #StructuralVariants #ResearchInnovation #GenomicsInsights

Zachary Zwirko will present a poster at #ASHG2025 on new methods using seqWell's MosaiX directional tagmentation technology for high complexity library preparation.

Connect with Zachary at poster 4003W or stop by booth 2495.

#NGS #LongReadSequencing #LibraryPrep
#ASHG

Explore how long-read sequencing advances polyploid and large genome assembly in plants. Gain insights into polyploid evolution, gene duplication, and genetic diversity.

Read more: bit.ly/3VJkqjs

#PolyploidGenomics #LongReadSequencing #PlantGenomics #GenomeAssembly #Agrigenomics

Discover how long-read sequencing is advancing microbial genomics. Gain insights into genome structure, complex variations, and applications in microbiome and pathogen research.

Read more: bit.ly/49FQ9rD

#MicrobialGenomics #LongReadSequencing #MicrobiomeResearch #Genomics #Innovation

Explore how long-read sequencing is revolutionizing agricultural genomics. Uncover detailed insights into complex genomes and structural variations for crop and livestock advancements.

Read more: bit.ly/3ZKx7Mg

#Agrigenomics #LongReadSequencing #Genomics #CropResearch #LivestockGenomics

Discover how HiFi sequencing and Kinnex solutions deliver comprehensive genomic insights in our on-demand webinar: "Innovations in Genomics."

Watch here: bit.ly/42nBApp

#HiFiSequencing #Genomics #LongReadSequencing #Transcriptomics #Innovation

EASIGEN-DS Advanced course on long-read sequencing and medical genomics | EASIGEN The EASIGEN-DS Consortium is pleased to invite you to a full-day hybrid advanced course focused on long-read sequencing and medical genomics taking place on Thursday 2 October 2025 at KU Leuven and…

📍Join us in person or online via Zoom
📅 2 October
📝 𝐑𝐞𝐠𝐢𝐬𝐭𝐞𝐫 𝐧𝐨𝐰 𝐭𝐨 𝐬𝐞𝐜𝐮𝐫𝐞 𝐲𝐨𝐮𝐫 𝐬𝐩𝐨𝐭, only few spots left for onsite attendance! ➡️ easigen.eu/events/easig...

#EASIGEN-DS #MedicalGenomics #LongReadSequencing #ResearchInfrastrcture #HorizonEU

@ghga.bsky.social 📣 Neue Podcast-Folge 📣
Long Read Sequencing verändert die genetische Diagnostik: Von einzelnen Fragmenten zum Gesamtbild. Im Gespräch mit Dr. Kornelia Neveling @radboudumc.bsky.social über Technik, Praxis & Zukunft.
🎧 t1p.de/hh03d
#Genetik #WissKomm #podcast #longreadsequencing

High-resolution mapping of DMD duplications using long-read sequencing enables precise carrier screening for Duchenne muscular dystrophy
Chen, S., Dong, Y. et al.
Paper
Details
#DMDduplications #LongReadSequencing #CarrierScreeningDMD

MIG Seminar: Dr. Mike Clark, The University of Melbourne Title: Unlocking the hidden world of RNA isoforms in brain development and neuropsychiatric disorders Abstract: Almost all human genes expr...

📢 MIG Seminar: Unlocking the hidden world of RNA isoforms in brain development and neuropsychiatric disorders

🗓️ Fri, Aug 8 | ⏰ 12 - 1 pm AEST
📍 Agar Theatre (G003), Biosciences 4 (147)
🎙️ Dr. Mike Clark

#LongReadSequencing #scRNAseq #Neuroscience #BrainDevelopment #MIGseminar

Long-read RNA sequencing of transposable elements from single cells using CELLO-seq. #LongReadSequencing #TransposableElements #SingleCell #scRNAseq #Genomics @natprot.nature.com
www.nature.com/articles/s41...

Whole-genome variant detection in long-read sequencing data from ultra-low input patient samples
Aex, C. J., Chang, J. R. et al.
Paper
Details
#LongReadSequencing #GenomicVariantDetection #LowInputSamples

Phylogenomics and metabolic engineering reveal a conserved gene cluster in Solanaceae plants for withanolide biosynthesis - Nature Communications Withanolides are plant steroids with potent bioactivities found in many medicinal plants including Withania somnifera, but their biosynthetic pathway is largely unknown. Here, the authors report the g...

Phylogenomics and metabolic engineering reveal a conserved gene cluster in Solanaceae plants for withanolide biosynthesis
doi.org/10.1038/s414...

#Genomics #Withanolides #SpecializedMetabolism #BiosyntheticGeneCluster #LongReadSequencing #MetabolicEngineering #OpenAccess #OpenData

The haplotype-resolved assembly of COL40 a cassava (Manihot esculenta) line with broad-spectrum resistance against viruses causing Cassava brown streak disease unveils a region of highly repeated elem... Abstract. Cassava (Manihot esculenta Grantz) is a vital staple crop for millions of people, particularly in Sub-Saharan Africa, where it is a primary sourc

The haplotype-resolved assembly of COL40 a cassava (Manihot esculenta) line with broad-spectrum resistance against viruses causing Cassava brown streak disease unveils a region of highly repeated elements on chromosome 12
doi.org/10.1093/g3jo...
#Genomics #Cassava #Bioinformatics #LongReadSequencing

Genome sequence of the ornamental plant Digitalis purpurea reveals the molecular basis of flower color and morphology variation Digitalis purpurea (foxglove) is a widely distributed ornamental plant and the producer of the biomedical compound digoxin. Here, we present a long read sequencing-based genome sequence of a red flowe...

Genome sequence of the ornamental plant Digitalis purpurea reveals the molecular basis of flower color and morphology variation
doi.org/10.1101/2024...

#Genomics #Anthocyanins #OrnamentalPlants #MedicinalPlants #LongReadSequencing #ONT