Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

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

Tandem repeats mediating genetic plasticity in health and disease

(2018) Anthony J. Hannan   NATURE REVIEWS GENETICS

Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing

(2017) Qian Liu et al.   Genome Medicine

Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity

(2017) Qingyu Wang et al.   Scientific Reports

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo assembly and phasing of a Korean human genome

(2016) Jeong-Sun Seo et al.   NATURE

Towards precision medicine

(2016) Euan A. Ashley   NATURE REVIEWS GENETICS

Long-read sequencing and de novo assembly of a Chinese genome

(2016) Lingling Shi et al.   Nature Communications

Molecular diagnostic experience of whole-exome sequencing in adult patients

(2015) Jennifer E. Posey et al.   GENETICS IN MEDICINE

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

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

Assembly and diploid architecture of an individual human genome via single-molecule technologies

(2015) Matthew Pendleton et al.   NATURE METHODS

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

(2015) Laurel K Willig et al.   Lancet Respiratory Medicine

Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia

(2014) Bi-Xia Zheng et al.   EUROPEAN JOURNAL OF PEDIATRICS

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

(2014) Priya S. Kishnani et al.   GENETICS IN MEDICINE

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes

(2014) Janice Y. Chou et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia

(2013) Lei-Lei Gu et al.   GENE

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

(2013) Andrew Kirby et al.   NATURE GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Alu elements: an intrinsic source of human genome instability

(2013) Catherine Ade et al.   Current Opinion in Virology

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene

(2012) E. W. Loomis et al.   GENOME RESEARCH

The Istanbul consensus workshop on embryo assessment: proceedings of an expert meeting

(2011) et al.   HUMAN REPRODUCTION

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy

(2010) Janice Y. Chou et al.   Nature Reviews Endocrinology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease

(2008) Janice Y. Chou et al.   HUMAN MUTATION