Results 161 to 170 of about 743,554 (284)

More accurate nanopore sequencing [PDF]

Nature Methods, 2019
openaire   +2 more sources

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Genomic Confirmation of HLA-DPA1*01:49 by Next Generation Sequencing and Oxford Nanopore Sequencing. [PDF]

HLA
Merschman J, Kreuter J, Wakefield L, Gandhi MJ.   +3 more
europepmc   +1 more source

Implantable electrochemical sensors for continuous blood monitoring

FlexMat, EarlyView.
Implantable electrochemical sensors enable direct, in situ, and continuous blood monitoring, shifting diagnosis from population‐based averages to dynamic, individualized analysis. This review systematically examines the influence of the unique blood properties on sensor design.
Kuangyi Zou, Yuanzhen Wang, Haidong Wang, Ye Zhang   +3 more
wiley   +1 more source

ECHO: a nanopore sequencing-based workflow for (epi)genetic profiling of the human repeatome. [PDF]

Bioinformatics
Poggiali B, Putzeys L, Andersen JD, Vidaki A.   +3 more
europepmc   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

The Novel HLA-DQB1*06:03:60 Allele Identified by Next-Generation Sequencing and Confirmed by Nanopore Sequencing. [PDF]

HLA
Harfouch E, Gomes M, Hamdaoui A, Merabet M, Chamillard X.   +4 more
europepmc   +1 more source

Oxford Nanopore Technologies: long-read sequencing for the enhancement of diagnostic analysis of rare monogenic diseases

openLa diagnosi di malattie monogeniche rare ad oggi rimane spesso incompleta a causa delle limitazioni delle tecniche di sequenziamento short-read. Pertanto, una soluzione possibile è l’utilizzo in ambito diagnostico di tecniche di sequenziamento long-
DALL'ARMI, ELENA
core  

Epigenetic Dysregulation of Somatostatin Receptors (SSTR) 1–5 and Therapeutic Implications in Neuroendocrine and Non‐Neuroendocrine Malignancies

International Journal of Cancer, EarlyView.
ABSTRACT Somatostatin receptors (SSTR) mediate the antiproliferative, antisecretory, and proapoptotic effects of somatostatin and its synthetic analogs. Their surface expression on neuroendocrine tumor (NET) cells is required for somatostatin analog therapy and radiopharmaceutical therapy (RPT).
Neeraj Kumari, Pablo Hoffmann, Laura Reichl, Maximilian Schmutz, Nina Fischer, Thi Tuong Vi Dang, Fulvia Ferrazzi, Pascal Johann, Michaela Kuhlen, Constantin Lapa, Rainer Claus   +10 more
wiley   +1 more source

Nanopore sequencing reveals coordinated host and microbiome responses across barley genotypes. [PDF]

BMC Biol
Devasahayam BRF, McNeil T, Wubet T, Schmutzer T.   +3 more
europepmc   +1 more source