January 27, 2025 | Human genetics research
Asset Type: Media article
January 27, 2025 | Human genetics research
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
January 27, 2025 | Human genetics research
Long-Read Sequencing Increases Diagnostic Yield for Pediatric Sensorineural Hearing Loss
September 17, 2024 | Human genetics research
A familial, telomere-to-telomere reference for human de novomutation and recombination from a four-generation pedigree
September 17, 2024 | RNA sequencing
Experimental and computational methods for allelic imbalance analysis from single nucleus RNA-seq data
September 17, 2024 | Human genetics research
IGLoo: profiling the immunoglobulin heavy chain locus in lymphoblastoid cell lines with PacBio high-fidelity sequencing reads
September 17, 2024 | Human genetics research
TRGT-denovo: accurate detection of de novo tandem repeat mutations
September 17, 2024 | Targeted sequencing
Benchmarking long-read sequencing strategies for obtaining ASV-resolved rRNA operons from environmental microeukaryotes
September 17, 2024 | Targeted sequencing
Resolving the chromatin impact of mosaic variants with targeted Fiber-seq
July 8, 2024 | Human genetics research
Structural polymorphism and diversity of human segmental duplications
In this preprint, HiFi reveals segment duplications (SDs) unresolvable by short reads. This missing info is essential for understanding human disease, evolution and diversity. Researchers from HGSVC, UW, Altos Labs,…
July 8, 2024 | RNA sequencing
Systematic evaluation of single-cell RNA-seq analyses performance based on long-read sequencing platforms
In this paper, researchers from China performed both PacBio Kinnex & ONT sequencing “with 10x genomics scRNA-seq and compared them to the benchmark NGS using exact the same cDNA libraries…