Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy.

International journal of molecular sciences - 13 Dec 2022

Salakhov Ramil R, Golubenko Maria V, Valiakhmetov Nail R, Pavlyukova Elena N, Zarubin Aleksei A, Babushkina Nadezhda P, Kucher Aksana N, Sleptcov Aleksei A, Nazarenko Maria S

Abstract excerpt

Increasing evidence suggests that both coding and non-coding regions of sarcomeric protein genes can contribute to hypertrophic cardiomyopathy (HCM). Here, we introduce an experimental workflow (tested on four patients) for complete sequencing of the most common HCM genes (MYBPC3, MYH7, TPM1, TNNT2, and TNNI3) via long-range PCR, Oxford Nanopore Technology (ONT) sequencing, and bioinformatic analysis. We applied...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy and Myosin Studies
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carrier Proteins

Share to Mutation

Share to Nanopore Sequencing

Share to RNA and protein synthesis mechanisms

Share to RNA modifications and cancer

Share to Troponin T

Source

Open in PubMed Open full text

Identifiers

PMID: 36555486
DOI: 10.3390/ijms232415845
PMCID: PMC9779642

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy.PMID 36555486Read ↗

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.Semantic proximity Read ↗

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.Semantic proximity Read ↗

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.Semantic proximity Read ↗

Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications.Semantic proximity Read ↗

DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies.Semantic proximity Read ↗

Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.Semantic proximity Read ↗

A Variant Detection Pipeline for Inherited Cardiomyopathy-Associated Genes Using Next-Generation Sequencing.Semantic proximity Read ↗

Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applicationsSemantic proximity Read ↗

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.Semantic proximity Read ↗

Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort.Semantic proximity Read ↗

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.