Inverted duplicate DNA sequences increase translocation rates through sequencing nanopores resulting in reduced base calling accuracy

An evolving view of copy number variants

(2019) Stephanie Lauer et al.   CURRENT GENETICS

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

(2019) Wouter De Coster et al.   GENOME RESEARCH

tailfindr: Alignment-free poly(A) length measurement for Oxford Nanopore RNA and DNA sequencing

(2019) Maximilian Krause et al.   RNA

Multi-platform discovery of haplotype-resolved structural variation in human genomes

(2019) Mark J. P. Chaisson et al.   Nature Communications

Nanopore native RNA sequencing of a human poly(A) transcriptome

(2019) Rachael E. Workman et al.   NATURE METHODS

Minimap2: pairwise alignment for nucleotide sequences

(2018) Heng Li   BIOINFORMATICS

Nanopore sequencing and assembly of a human genome with ultra-long reads

(2018) Miten Jain et al.   NATURE BIOTECHNOLOGY

Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck et al.   NATURE METHODS

Single-cell copy number variant detection reveals the dynamics and diversity of adaptation

(2018) Stephanie Lauer et al.   PLOS BIOLOGY

Investigating asymmetric salt profiles for nanopore DNA sequencing with biological porin MspA

(2017) Ian C. Nova et al.   PLoS One

Discovery and genotyping of structural variation from long-read haploid genome sequence data

(2016) John Huddleston et al.   GENOME RESEARCH

Three decades of nanopore sequencing

(2016) David Deamer et al.   NATURE BIOTECHNOLOGY

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints

(2015) Scott Newman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

Human Structural Variation: Mechanisms of Chromosome Rearrangements

(2015) Brooke Weckselblatt et al.   TRENDS IN GENETICS

Origin-Dependent Inverted-Repeat Amplification: Tests of a Model for Inverted DNA Amplification

(2015) Bonita J. Brewer et al.   PLoS Genetics

Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism

(2014) Karen E. Hermetz et al.   PLoS Genetics

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

Statistical challenges associated with detecting copy number variations with next-generation sequencing

(2012) Shu Mei Teo et al.   BIOINFORMATICS

Origin-Dependent Inverted-Repeat Amplification: A Replication-Based Model for Generating Palindromic Amplicons

(2011) Bonita J. Brewer et al.   PLoS Genetics

The potential and challenges of nanopore sequencing

(2008) Daniel Branton et al.   NATURE BIOTECHNOLOGY