Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing

Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2

(2019) Bo Zhou et al.   NUCLEIC ACIDS RESEARCH

Long-Read Sequencing Emerging in Medical Genetics

(2019) Tuomo Mantere et al.   Frontiers in Genetics

NanoPack: visualizing and processing long-read sequencing data

(2018) Wouter De Coster et al.   BIOINFORMATICS

Different subtypes of EGFR exon19 mutation can affect prognosis of patients with non-small cell lung adenocarcinoma

(2018) Yingying Tian et al.   PLoS One

Functional Mechanisms of Microsatellite DNA in Eukaryotic Genomes

(2017) Andrew T.M. Bagshaw   Genome Biology and Evolution

Linked read sequencing resolves complex genomic rearrangements in gastric cancer metastases

(2017) Stephanie U. Greer et al.   Genome Medicine

Advancements in Next-Generation Sequencing

(2016) Shawn E. Levy et al.   Annual Review of Genomics and Human Genetics

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

(2016) John Huddleston et al.   GENOME RESEARCH

Prospective Analysis of Oncogenic Driver Mutations and Environmental Factors: Japan Molecular Epidemiology for Lung Cancer Study

(2016) Tomoya Kawaguchi et al.   JOURNAL OF CLINICAL ONCOLOGY

Role of non-coding sequence variants in cancer

(2016) Ekta Khurana et al.   NATURE REVIEWS GENETICS

Assessing structural variation in a personal genome—towards a human reference diploid genome

(2015) Adam C English et al.   BMC GENOMICS

Finding the Right Match Fast

(2015) Divya Nandakumar et al.   CELL

Structural variation mutagenesis of the human genome: Impact on disease and evolution

(2015) James R. Lupski   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

(2015) Shen Gu et al.   HUMAN MOLECULAR GENETICS

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

(2015) Peter H. Sudmant et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination

(2015) Michał Startek et al.   NUCLEIC ACIDS RESEARCH

Common Oncogene Mutations and Novel SND1-BRAF Transcript Fusion in Lung Adenocarcinoma from Never Smokers

(2015) Jin Sung Jang et al.   Scientific Reports

Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions

(2015) Nevim Aygun   Scientific Reports

Microsatellite instability typing in serum and tissue of patients with colorectal cancer: comparing real time PCR with hybridization probe and high-performance liquid chromatography

(2014) P. Mokarram et al.   MOLECULAR BIOLOGY REPORTS

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

(2014) Julia Vogt et al.   GENOME BIOLOGY

The balancing act of DNA repeat expansions

(2013) Jane C Kim et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

A Comparison of 100 Human Genes Using an Alu Element-Based Instability Model

(2013) George W. Cook et al.   PLoS One

Alu-Alu Fusion Sequences Identified at Junction Sites of Copy Number Amplified Regions in Cancer Cell Lines

(2012) K. Kitada et al.   CYTOGENETIC AND GENOME RESEARCH

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Tumor-specific microsatellite instability: Do distinct mechanisms underlie the MSI-L and EMAST phenotypes?

(2012) Suzanne E. Hile et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

The importance of phase information for human genomics

(2011) Ryan Tewhey et al.   NATURE REVIEWS GENETICS

Repetitive Elements May Comprise Over Two-Thirds of the Human Genome

(2011) A. P. Jason de Koning et al.   PLoS Genetics

Alu pair exclusions in the human genome

(2011) George W Cook et al.   Mobile DNA

Frequency of EGFR and KRAS Mutations in Lung Adenocarcinomas in African Americans

(2010) J. Matthew Reinersman et al.   Journal of Thoracic Oncology

Recombination-Associated Sequence Homogenization of Neighboring Alu Elements: Signature of Nonallelic Gene Conversion

(2010) A. Aleshin et al.   MOLECULAR BIOLOGY AND EVOLUTION

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Estimating genomic instability mediated by Alu retroelements in breast cancer

(2009) Ana Cristina Fazza et al.   GENETICS AND MOLECULAR BIOLOGY

Alu-Alurecombination underlies the vast majority of largeVHLgermline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

(2009) Gerlind Franke et al.   HUMAN MUTATION

Nuclear EGFR contributes to acquired resistance to cetuximab

(2009) C Li et al.   ONCOGENE

Activating and resistance mutations of EGFR in non-small-cell lung cancer: role in clinical response to EGFR tyrosine kinase inhibitors

(2009) A F Gazdar   ONCOGENE

Small Deletion Variants Have Stable Breakpoints Commonly Associated with Alu Elements

(2008) Adam J. de Smith et al.   PLoS One

L1 recombination-associated deletions generate human genomic variation

(2008) K. Han et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA