Results 151 to 160 of about 938,732 (287)

Phenotypic and Genotypic Analysis of Two Rare Cases of ‐‐SEA/‐α4.3 HbH Disease

Journal of Clinical Laboratory Analysis, EarlyView.
We report two unrelated adult patients with rare deletional HbH disease (genotype ‐‐SEA/‐α4.3). This novel 4.3 kb deletion covering the HBA1 gene is accompanied by X‐Y‐Z segment recombination, which was identified by CycloneSEQ long‐read nanopore sequencing.
Weijia Yang, Xiaoyan Huang, Li Zhang, Xiaoqin Yang, Yaya Guo, Qingping Kang, Min Dou, Guijun Huang   +7 more
wiley   +1 more source

Optical Stimulation and Monitoring of the Peripheral Nervous System: Perspectives and Challenges Toward Clinical Translation

Laser &Photonics Reviews, EarlyView.
Optical neuromodulation with IR light allows stimulation of the PNS without the need for physical contact with the target nerve or without requiring any genetic modification. The clinical translation of this technique will pave the way to the development of neural interfaces for restoring sensory feedback in individuals with limb amputation.
Federica Piccirillo, Sarassunta Ucci, Anna Aliberti, Patrizio Vaiano, Alessia La Rocca, Francesca Angelone, Silvia Pascarella, Pellegrino Lippiello, Maria Concetta Miniaci, Giuseppe Prisco, Michela Russo, Francesco Amato, Deyanira Contartese, Milena Fini, Gianluca Giavaresi, Lucia Martini, Francesco Rosa, Cosimo Gentile, Emanuele Gruppioni, Armando Ricciardi, Andrea Cusano   +20 more
wiley   +1 more source

Nanopore sequencing in infectious disease diagnostics and surveillance. [PDF]

J Clin Microbiol
Somayaji A, Mukherjee P, Koch C, Prazeres da Costa C, Hamway Y.   +4 more
europepmc   +1 more source

Recent Advances in Top‐Down Proteomics for Single‐Cell Research

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Individual cells have distinctive molecular characteristics, including biologically relevant proteoforms. Although single‐cell (SC) molecular omics offer unprecedented insights into cellular heterogeneity and function, the characterization of proteoforms in SCs remains an uncharted territory.
Jake A. Melby, Pei Su, Fabio P. Gomes
wiley   +1 more source

More accurate nanopore sequencing [PDF]

Nature Methods, 2019
openaire   +2 more sources

Nanopore Sequencing for Epigenetic Decoding: Applications, Analytical Constraints, and Translational Prospects. [PDF]

Int J Mol Sci
Xin J, Liu J, Liu Y, Liu X, Ma M, Huang A, Ye Z, Zhang P, Wang X, Zeng T, Lin X, Liu C, Lu L, Chen L.   +13 more
europepmc   +1 more source

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

Absolute quantification and profiling of cellular tRNAs by nanopore sequencing and a deep learning classifier. [PDF]

Nat Commun
Ueda H, Maeda M, Okada S, Noguchi R, Dasgupta B, Yamamoto R, Furuta M, Nishi A, Nagao A, Sakaguchi Y, Miyauchi K, Suzuki T.   +11 more
europepmc   +1 more source

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

OligoSeq: Rapid nanopore-sequencing of single-stranded oligonucleotides. [PDF]

PLoS One
Ramirez-Garcia R, Das A, Sokolowska P, Heinis T.   +3 more
europepmc   +1 more source