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

A pipeline for complete characterization of complex germline rearrangements from long DNA reads.

Genome medicine - 31 Jul 2020

Mitsuhashi Satomi, Ohori Sachiko, Katoh Kazutaka, Frith Martin C, Matsumoto Naomichi

Abstract excerpt

BACKGROUND: Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints. It is important to fully understand the order and orientation of rearranged fragments, with precise breakpoints, to know the pathogenicity of the rearrangements. METHODS: We performed whole-genome-coverage nanopore...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Aberrations
Share to Chromosome Breakpoints

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Rearrangement

Share to Genome, Human

Share to Germ-Line Mutation

Share to High-Throughput Nucleotide Sequencing

Share to Translocation, Genetic

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 32731881
DOI: 10.1186/s13073-020-00762-1
PMCID: PMC7393826

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

A pipeline for complete characterization of complex germline rearrangements from long DNA reads.PMID 32731881Read ↗

A method for complete characterization of complex germline rearrangements from long DNA readsSemantic proximity Read ↗

Localization of balanced chromosome translocation breakpoints by long-read sequencing on the Oxford Nanopore platformSemantic proximity Read ↗

Human Structural Variation: Mechanisms of Chromosome Rearrangements.Semantic proximity Read ↗

Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.Semantic proximity Read ↗

Large complex structural rearrangements in human genomes harbor cryptic structuresSemantic proximity Read ↗

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assemblySemantic proximity Read ↗

A bestiary of localized sequence rearrangements in human DNASemantic proximity Read ↗

Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangementsSemantic proximity Read ↗

A survey of localized sequence rearrangements in human DNA.Semantic proximity Read ↗

NanoRanger enables rapid single-base-pair resolution of genomic disordersSemantic proximity Read ↗

What have studies of genomic disorders taught us about our genome?Semantic proximity Read ↗

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline.Semantic proximity Read ↗

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