Application of full-genome analysis to diagnose rare monogenic disorders

Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants

(2020) Huijun Wang et al.   npj Genomic Medicine

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses

(2020) Kiely N. James et al.   npj Genomic Medicine

Genome maps across 26 human populations reveal population-specific patterns of structural variation

(2019) Michal Levy-Sakin et al.   Nature Communications

Resolving the full spectrum of human genome variation using Linked-Reads

(2019) Patrick Marks et al.   GENOME RESEARCH

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

(2019) Michelle M. Clark et al.   Science Translational Medicine

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

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

Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software

(2019) Daniel L. Cameron et al.   Nature Communications

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

(2018) Katharina Schwarze et al.   GENETICS IN MEDICINE

Structural absorption by barbule microstructures of super black bird of paradise feathers

(2018) Dakota E. McCoy et al.   Nature Communications

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

(2018) Michelle M. Clark et al.   npj Genomic Medicine

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

(2018) Renqian Du et al.   HUMAN GENETICS

Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy

(2018) Betsy E. P. Ostrander et al.   npj Genomic Medicine

Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants

(2018) Monica Penon et al.   Molecular Genetics & Genomic Medicine

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

(2018) Andrew M. Gross et al.   GENETICS IN MEDICINE

De novo unbalanced translocations have a complex history/aetiology

(2018) Maria Clara Bonaglia et al.   HUMAN GENETICS

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

(2017) Sophie Nambot et al.   GENETICS IN MEDICINE

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

(2017) Valerie A. Schneider et al.   GENOME RESEARCH

Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog)

(2017) Anja J Will et al.   NATURE GENETICS

Diversity in non-repetitive human sequences not found in the reference genome

(2017) Birte Kehr et al.   NATURE GENETICS

Identification of novel candidate disease genes from de novo exonic copy number variants

(2017) Tomasz Gambin et al.   Genome Medicine

Advancements in Next-Generation Sequencing

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

De novo assembly and phasing of a Korean human genome

(2016) Jeong-Sun Seo et al.   NATURE

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

(2016) Jakob M Goldmann et al.   NATURE GENETICS

A hybrid approach for de novo human genome sequence assembly and phasing

(2016) Yulia Mostovoy et al.   NATURE METHODS

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

(2016) Alon Peled et al.   PLoS Genetics

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

(2016) Dimitri J Stavropoulos et al.   npj Genomic Medicine

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

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis

(2010) Eva Klopocki et al.   AMERICAN JOURNAL OF HUMAN GENETICS