Results 171 to 180 of about 5,800,592 (273)
Quantitative Biology, Volume 14, Issue 4, December 2026.Abstract Although long‐read sequencing enables comprehensive genomic analysis, its potential is hindered by its reliance on the incomplete GRCh38 reference genome. GRCh38’s unresolved bases, structural errors, and haplotype mosaics introduce reference biases, leading to missed variants and false‐positive calls.
Zhenxian Zheng +6 more
wiley +1 more source
Pediatric Blood &Cancer, Volume 73, Issue 11, November 2026.ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho +6 more
wiley +1 more source
Confirmation and Extension of the HLA-DPB1*1000:01 Allele by Next-Generation and Oxford Nanopore Sequencing. [PDF]
HLAMerschman J +4 more
europepmc +1 more source
Molecular Oncology, Volume 20, Issue 10, Page 2410-2423, October 2026.Single‐cell DNA methylation (scDNAme) profiling maps epimutational clonal evolution, revealing mechanisms of malignancy and therapeutic resistance across diverse cancer types. By providing a high‐resolution landscape of intratumoral heterogeneity, these technologies empower precise patient stratification, guide the development of enhanced ...
Ik Soo Kim
wiley +1 more source
Genomic Confirmation of HLA-DPA1*01:49 by Next Generation Sequencing and Oxford Nanopore Sequencing. [PDF]
HLAMerschman J +3 more
europepmc +1 more source
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2134-2137, October 2026.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Oxford Nanopore Sequencing, a Promising Technology for Precision Diagnostics in Intensive Care Units: A Narrative Review. [PDF]
BiomedicinesAzamfirei L +4 more
europepmc +1 more source
A Pan‐Methylome Framework for Population‐Scale Bacterial Epigenomics
Advanced Science, Volume 13, Issue 55, 5 October 2026.A scalable quantitative framework unlocks population‐level comparative epigenomics in bacteria. By transforming site‐level data into standardized traits, this approach reconstructs methylation‐informed phylogenies and defines the core epigenome.
Bin Ma +22 more
wiley +1 more source
Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing. [PDF]
HLAMerschman J +4 more
europepmc +1 more source
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2338-2344, October 2026.ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +123 more
wiley +1 more source