The Rise and Rise of Exome Sequencing

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Low-Frequency Coding Variants at 6p21.33 and 20q11.21 Are Associated with Lung Cancer Risk in Chinese Populations

(2015) Guangfu Jin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

(2015) Tojo Nakayama et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

(2015) Niccolo E. Mencacci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novopoint mutations in patients diagnosed with ataxic cerebral palsy

(2015) Ricardo Parolin Schnekenberg et al.   BRAIN

Practical considerations in the clinical application of whole-exome sequencing

(2015) V. Shashi et al.   CLINICAL GENETICS

Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics

(2015) Julie Jurgens et al.   GENETICS IN MEDICINE

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour

(2015) Oriol Calvete et al.   HUMAN MOLECULAR GENETICS

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

(2015) Stefan H. Lelieveld et al.   HUMAN MUTATION

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

(2015) Yu Sun et al.   HUMAN MUTATION

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

(2015) Kym Boycott et al.   JOURNAL OF MEDICAL GENETICS

Nonsense mutation in theWDR73gene is associated with Galloway-Mowat syndrome

(2015) Tawfeg Ben-Omran et al.   JOURNAL OF MEDICAL GENETICS

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

(2015) Jong Hee Chae et al.   JOURNAL OF MEDICAL GENETICS

Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene

(2015) Alberto Cascón et al.   JNCI-Journal of the National Cancer Institute

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

(2015) Caroline F Wright et al.   LANCET

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

(2015) Robbert D A Weren et al.   NATURE GENETICS

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

(2015) Leila Noetzli et al.   NATURE GENETICS

Whole-genome sequencing of quartet families with autism spectrum disorder

(2015) Ryan K C Yuen et al.   NATURE MEDICINE

New insights into the performance of human whole-exome capture platforms

(2015) J. Meienberg et al.   NUCLEIC ACIDS RESEARCH

Cancer whole-genome sequencing: present and future

(2015) H Nakagawa et al.   ONCOGENE

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours

(2015) Kevin Litchfield et al.   Nature Communications

Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations

(2015) Lv-Zhen Huang et al.   Nature Communications

Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis

(2015) Xianbo Zuo et al.   Nature Communications

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

(2015) Jennifer Wessel et al.   Nature Communications

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke

(2015) Paul L. Auer et al.   JAMA Neurology

Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene

(2015) Alberto Cascón et al.   JNCI-Journal of the National Cancer Institute

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

(2014) Asbjørg Stray-Pedersen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Performance comparison of four exome capture systems for deep sequencing

(2014) Chandra Sekhar Chilamakuri et al.   BMC GENOMICS

Exome sequencing in undiagnosed inherited and sporadic ataxias

(2014) Angela Pyle et al.   BRAIN

Managing the ethical challenges of next-generation sequencing in genomic medicine

(2014) A. J. Clarke   BRITISH MEDICAL BULLETIN

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

(2014) Li Zhao et al.   HUMAN GENETICS

The Challenge for the Next Generation of Medical Geneticists

(2014) Thierry Frebourg   HUMAN MUTATION

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

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

Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations

(2014) Lang Wu et al.   JOURNAL OF MEDICAL GENETICS

Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma

(2014) Matthew N. Bainbridge et al.   JNCI-Journal of the National Cancer Institute

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

Discovery and saturation analysis of cancer genes across 21 tumour types

(2014) Michael S. Lawrence et al.   NATURE

Sequencing depth and coverage: key considerations in genomic analyses

(2014) David Sims et al.   NATURE REVIEWS GENETICS

Diagnostic Clinical Genome and Exome Sequencing

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

Integrating Multiple Genomic Data to Predict Disease-Causing Nonsynonymous Single Nucleotide Variants in Exome Sequencing Studies

(2014) Jiaxin Wu et al.   PLoS Genetics

Exome sequencing greatly expedites the progressive research of Mendelian diseases

(2014) Xuejun Zhang   Frontiers of Medicine

From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease

(2013) Chee-Seng Ku et al.   JOURNAL OF MEDICAL GENETICS

Cancer genome-sequencing study design

(2013) Jill C. Mwenifumbo et al.   NATURE REVIEWS GENETICS

Emerging patterns of somatic mutations in cancer

(2013) Ian R. Watson et al.   NATURE REVIEWS GENETICS

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Diagnostic Exome Sequencing: A New Paradigm in Neurology

(2013) Norman Delanty et al.   NEURON

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

(2013) K. M. Nishiguchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Promise and Challenges of Next-Generation Genome Sequencing for Clinical Care

(2013) Katherine A. Johansen Taber et al.   JAMA Internal Medicine

Mutations inVRK1Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly

(2013) Claudia Gonzaga-Jauregui et al.   JAMA Neurology

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

(2012) Michael J. Bamshad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autozygosity Mapping with Exome Sequence Data

(2012) Ian M. Carr et al.   HUMAN MUTATION

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

(2012) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

(2012) C S Ku et al.   MOLECULAR PSYCHIATRY

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

(2012) Zhi Jiang Zang et al.   NATURE GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome sequencing: Dual role as a discovery and diagnostic tool

(2011) Chee-Seng Ku et al.   ANNALS OF NEUROLOGY

Revisiting Mendelian disorders through exome sequencing

(2011) Chee-Seng Ku et al.   HUMAN GENETICS

Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene

(2011) John S. Welch   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

(2011) D. Watkins et al.   JOURNAL OF MEDICAL GENETICS

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

(2011) Iñaki Comino-Méndez et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Comprehensive comparison of three commercial human whole-exome capture platforms

(2011) Asan et al.   GENOME BIOLOGY

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

International network of cancer genome projects

(2010) Thomas J. Hudson (Chairperson) et al.   NATURE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene

(2009) S. Jones et al.   SCIENCE