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

Massively parallel sequencing approaches for characterization of structural variation.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2012

Koboldt Daniel C, Larson David E, Chen Ken, Ding Li, Wilson Richard K

Abstract excerpt

The emergence of next-generation sequencing (NGS) technologies offers an incredible opportunity to comprehensively study DNA sequence variation in human genomes. Commercially available platforms from Roche (454), Illumina (Genome Analyzer and Hiseq 2000), and Applied Biosystems (SOLiD) have the capability to completely sequence individual genomes to high levels of coverage. NGS data is particularly advantageous...

Read the complete abstract on PubMed

Topics

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

Share to Base Pairing
Share to Databases, Genetic
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Library

Share to Genome, Human

Share to Reproducibility of Results

Share to Software

Share to Translocation, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 22228022
DOI: 10.1007/978-1-61779-507-7_18
PMCID: PMC3679911

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

Massively parallel sequencing approaches for characterization of structural variation.PMID 22228022Read ↗

Computational methods for discovering structural variation with next-generation sequencing.Semantic proximity Read ↗

Genome structural variation discovery and genotyping.Semantic proximity Read ↗

NGS for Sequence Variants.Semantic proximity Read ↗

MetaSV: an accurate and integrative structural-variant caller for next generation sequencing.Semantic proximity Read ↗

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

Detecting structural variations in the human genome using next generation sequencing.Semantic proximity Read ↗

Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats.Semantic proximity Read ↗

Discovery, genotyping and characterization of structural variation and novel sequence at single nucleotide resolution from de novo genome assemblies on a population scale.Semantic proximity Read ↗

DNAscan2: a versatile, scalable, and user-friendly analysis pipeline for next-generation sequencing dataSemantic proximity Read ↗

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing dataSemantic proximity Read ↗

Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis.Semantic proximity Read ↗

Overview of structural variation calling: Simulation, identification, and visualization.Semantic proximity Read ↗

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