F. Sedlazeck

Isocall enables scalable transcript identification from long-read RNA-sequencing data

Long-read RNA sequencing directly resolves the full structures of RNA transcripts. Advances in throughput now enable the generation of deeply sequenced cohorts of hundreds of samples, making joint transcript discovery across large datasets possible. However, existing transcript identification methods were designed for...

Integrated map of somatic mosaicism across human tissues in 25 individuals

The first integrated analysis of the Somatic Mosaicism across Human Tissues (SMaHT) Network’s production resource is presented, profiling up to 20 tissues from 25 donors using short- and long-read, duplex, single-cell, transcriptomic, and epigenomic sequencing, alongside donor-specific near-telomere-to-telomere assembl...

Bioinformatics for human long-read whole-genome sequencing

SALRR: Scalable Analysis of Long-Read RNA-Seq Enables Comprehensive Transcriptome Profiling in Human Brain

Isoform-resolved transcriptomics is fundamental to decoding the molecular complexity of the human brain, yet population-scale long-read RNA sequencing has remained inaccessible due to labor-intensive library preparation, sensitivity to RNA degradation in postmortem tissue, and the absence of integrated, reproducible an...

A complete diploid human genome benchmark for personalized genomics

A telomere-to-telomere genome benchmark with near-perfect accuracy across 99.4% of the diploid HG002 genome is presented, expanding the reach of genomic medicine to the entire genome and enabling a new era of personalized genomics.