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

Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond.

BioEssays : news and reviews in molecular, cellular and developmental biology - 1 Nov 2011

Onishi-Seebacher Megumi, Korbel Jan O

Abstract excerpt

Next-generation sequencing (NGS) technologies have revolutionised the analysis of genomic structural variants (SVs), providing significant insights into SV de novo formation based on analyses of rearrangement breakpoint junctions. The short DNA reads generated by NGS, however, have also created novel obstacles by biasing the ascertainment of SVs, an aspect that we refer to as the 'short-read dilemma'. For...

Read the complete abstract on PubMed

Topics

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

Share to Databases, Genetic
Share to DNA Breaks, Double-Stranded

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Replication

Share to Genomic Instability

Share to Genomic Structural Variation

Share to Mutation Rate

Share to Repetitive Sequences, Nucleic Acid

Share to Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 21959584
DOI: 10.1002/bies.201100075

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

Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond.PMID 21959584Read ↗

Small allelic variants are a source of ancestral bias in structural variant breakpoint placementSemantic proximity Read ↗

[Resolving Genomic Mysteries with Long-read Sequencing].Semantic proximity Read ↗

Expectations and blind spots for structural variation detection from short-read alignment and long-read assemblySemantic proximity Read ↗

Long-Read DNA Sequencing: Recent Advances and Remaining Challenges.Semantic proximity Read ↗

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

Elevated variant density around SV breakpoints in germline lineage lends support to error-prone replication hypothesis.Semantic proximity Read ↗

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

Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library.Semantic proximity Read ↗

Loose ends in cancer genome structureSemantic proximity Read ↗

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

Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing.Semantic proximity Read ↗

Mechanisms underlying structural variant formation in genomic disorders.Semantic proximity Read ↗

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