Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Picky comprehensively detects high-resolution structural variants in nanopore long reads

(2018) Liang Gong et al.   NATURE METHODS

Accurate detection of complex structural variations using single-molecule sequencing

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

Noncoding copy-number variations are associated with congenital limb malformation

(2017) Ricarda Flöttmann et al.   GENETICS IN MEDICINE

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

(2017) Jason D Merker et al.   GENETICS IN MEDICINE

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

(2017) Nuria C. Bramswig et al.   HUMAN GENETICS

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

(2017) Mircea Cretu Stancu et al.   Nature Communications

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

(2017) Katja Lohmann et al.   JAMA Neurology

Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

(2016) Prasanthi Namburi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

(2016) Gavin Arno et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Canvas: versatile and scalable detection of copy number variants

(2016) Eric Roller et al.   BIOINFORMATICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Parent-of-origin-specific signatures of de novo mutations

(2016) Jakob M Goldmann et al.   NATURE GENETICS

Mechanisms underlying structural variant formation in genomic disorders

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

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

(2016) Jayne Y. Hehir-Kwa et al.   Nature Communications

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

(2015) Harrison Brand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

(2015) Shen Gu et al.   HUMAN MOLECULAR GENETICS

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

(2015) Shen Gu et al.   HUMAN MUTATION

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

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

(2015) Peter H. Sudmant et al.   NATURE

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

Human Structural Variation: Mechanisms of Chromosome Rearrangements

(2015) Brooke Weckselblatt et al.   TRENDS IN GENETICS

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

(2015) Christine R. Beck et al.   PLoS Genetics

Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature

(2014) Zehra Ordulu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders

(2014) Harrison Brand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion ofUBE3Ain brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2

(2014) Yukiko Kuroda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype-phenotype correlation

(2014) Chloe Quelin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

(2013) Dagmar Wieczorek et al.   HUMAN MOLECULAR GENETICS

Replicative mechanisms for CNV formation are error prone

(2013) Claudia M B Carvalho et al.   NATURE GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

(2011) Philip J. Stephens et al.   CELL

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

(2011) Pengfei Liu et al.   CELL

Adaptive seeds tame genomic sequence comparison

(2011) S. M. Kielbasa et al.   GENOME RESEARCH

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

(2011) Claudia M B Carvalho et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Characterizing complex structural variation in germline and somatic genomes

(2011) Aaron R. Quinlan et al.   TRENDS IN GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

(2010) Donald F Conrad et al.   NATURE GENETICS

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS