Your search for returned 6,409 results
Method
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
- First Published March 20, 2025
Research
Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA
- First Published March 20, 2025
Perspective
Unraveling the hidden complexity of cancer through long-read sequencing
- First Published March 20, 2025
Research
Heterogeneous and novel transcript expression in single cells of patient-derived clear cell renal cell carcinoma organoids
- First Published March 19, 2025
Research
Optical genome mapping identifies rare structural variants in neural tube defects
- First Published March 19, 2025
Method
De novo detection of somatic variants in high-quality long-read single-cell RNA sequencing data
- First Published March 19, 2025
Method
BINDER achieves accurate identification of hierarchical TADs by comprehensively characterizing consensus TAD boundaries
- First Published March 17, 2025
Research
Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T
- First Published March 17, 2025
Method
Accurate fusion transcript identification from long- and short-read isoform sequencing at bulk or single-cell resolution
- First Published March 14, 2025
Method
Biosurfer for systematic tracking of regulatory mechanisms leading to protein isoform diversity
- First Published March 14, 2025
Research
KRAB zinc-finger proteins regulate endogenous retroviruses to sculpt germline transcriptomes and genome evolution
- First Published March 12, 2025
Research
Assessing DNA methylation detection for primary human tissue using Nanopore sequencing
- First Published March 7, 2025
Research
Integrating short-read and long-read single-cell RNA sequencing for comprehensive transcriptome profiling in mouse retina
- First Published March 6, 2025
Method
Homozygous editing of multiple genes for accelerated generation of xenotransplantation pigs
- First Published March 5, 2025
Research
Identification of the male-specific region on the guppy Y Chromosome from a haplotype-resolved assembly
- First Published March 5, 2025
Research
Vertebrates show coordinated elevated expression of mitochondrial and nuclear genes after birth
- First Published March 4, 2025
Method
RAmbler resolves complex repeats in human Chromosomes 8, 19, and X
- First Published March 4, 2025
Research
Multisite long-read sequencing reveals the early contributions of somatic structural variations to HBV-related hepatocellular carcinoma tumorigenesis
- First Published March 4, 2025
Method
Optimizing nanopore adaptive sampling for pneumococcal serotype surveillance in complex samples using the graph-based GNASTy algorithm
- First Published March 4, 2025
Research
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches
- First Published March 4, 2025
Research
Spirodela polyrhiza" > Atypical epigenetic and small RNA control of degenerated transposons and their fragments in clonally reproducing Spirodela polyrhiza
- First Published March 4, 2025
Research
Estrogen-induced chromatin looping changes identify a subset of functional regulatory elements
- First Published March 3, 2025
Perspective
Notable challenges posed by long-read sequencing for the study of transcriptional diversity and genome annotation
- First Published March 3, 2025
Method
Quality assessment of long read data in multisample lrRNA-seq experiments using SQANTI-reads
- First Published March 3, 2025
Research
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
- First Published February 27, 2025
Resource
Exploring the epigenome profiles of repetitive elements with the WashU Repeat Browser
- First Published February 21, 2025
Research
The genomic consequences and persistence of sociality in spiders
- First Published February 20, 2025
Research
Transcriptomic and proteomic effects of gene deletion are not evolutionarily conserved
- First Published February 18, 2025
Research
Long-read single-cell RNA sequencing enables the study of cancer subclone-specific genotypes and phenotypes in chronic lymphocytic leukemia
- First Published February 18, 2025
Research
Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection
- First Published February 14, 2025
Research
Ancient dog introgression into the Iberian wolf genome may have facilitated adaptation to human-dominated landscapes
- First Published February 14, 2025
Research
Genetic regulation of nascent RNA maturation revealed by direct RNA nanopore sequencing
- First Published February 14, 2025
Research
Nucleosome binding by TP53, TP63, and TP73 is determined by the composition, accessibility, and helical orientation of their binding sites
- First Published February 10, 2025
Research
Variation in the fitness impact of translationally optimal codons among animals
- First Published February 10, 2025
Method
Kernel-bounded clustering for spatial transcriptomics enables scalable discovery of complex spatial domains
- First Published February 5, 2025
Mini-Review
The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases
- First Published February 3, 2025
Review
k-mer approaches for biodiversity genomics" > k-mer approaches for biodiversity genomics
- First Published January 31, 2025
Method
Enhancing nanopore adaptive sampling for PromethION using readfish at scale
- First Published January 30, 2025
Method
Rapid and accurate demultiplexing of direct RNA nanopore sequencing data with SeqTagger
- First Published January 29, 2025
Review
Artificial intelligence and machine learning in cell-free-DNA-based diagnostics
- First Published January 22, 2025
Resource
Common and specific gene regulatory programs in zebrafish caudal fin regeneration at single-cell resolution
- First Published January 14, 2025
Research
Characterization of the role of spatial proximity of DNA double-strand breaks in the formation of CRISPR-Cas9-induced large structural variations
- First Published January 13, 2025
Method
Interactive visualization and interpretation of pangenome graphs by linear reference–based coordinate projection and annotation integration
- First Published January 13, 2025
Method
Nanopore-based consensus sequencing enables accurate multimodal tumor cell-free DNA profiling
- First Published January 13, 2025
Research
DDX3X and DDX3Y" > Post-transcriptional cross- and auto-regulation buffer expression of the human RNA helicases DDX3X and DDX3Y
- First Published January 10, 2025
Method
Proxy panels enable privacy-aware outsourcing of genotype imputation
- First Published January 10, 2025
Method
Single-cell Rapid Capture Hybridization sequencing reliably detects isoform usage and coding mutations in targeted genes
- First Published January 10, 2025