Genome analysis and knowledge-driven variant interpretation with TGex

Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics

(2019) Pawel Suwinski et al.   Frontiers in Genetics

Ten years of Genome Medicine

(2019) Charles Auffray et al.   Genome Medicine

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

(2019) Takeshi Mizuguchi et al.   JOURNAL OF HUMAN GENETICS

Genomic Analysis in the Age of Human Genome Sequencing

(2019) Tuuli Lappalainen et al.   CELL

Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder

(2019) Fei Chen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

(2019) Klaus Schmitz-Abe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Introducing whole-genome sequencing into routine cancer care: the Genomics England 100 000 Genomes Project

(2018) C Turnbull   ANNALS OF ONCOLOGY

Clinical sequencing: From raw data to diagnosis with lifetime value

(2018) S.M. Caspar et al.   CLINICAL GENETICS

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin

(2018) G. Heimer et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

(2018) Giulia Pascolini et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

(2018) Nick Dragojlovic et al.   GENETICS IN MEDICINE

Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema

(2018) Valeria Bafunno et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mutation burden profile in familial Alzheimer's disease cases from India

(2018) Adhikarla Syama et al.   NEUROBIOLOGY OF AGING

Whole Exome Sequencing

(2018) Angie C. Jelin et al.   OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

(2018) Clare Turnbull et al.   BMJ-British Medical Journal

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

(2018) Clare Turnbull et al.   BMJ-British Medical Journal

De novo mutations in regulatory elements in neurodevelopmental disorders

(2018) Patrick J. Short et al.   NATURE

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14

(2018) Marco Castori et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

LTBP2 -related “Marfan-like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

(2018) Silvia Morlino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

(2018) Qin Wang et al.   BMC Medical Genetics

Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine

(2018) Laura Valle et al.   JOURNAL OF PATHOLOGY

Database resources of the National Center for Biotechnology Information

(2018) Eric W Sayers et al.   NUCLEIC ACIDS RESEARCH

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Next-generation sequencing of patients with congenital anosmia

(2017) Anna Alkelai et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

(2017) Elizabeth Ormondroyd et al.   GENETICS IN MEDICINE

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2017) Robert C Green et al.   GENETICS IN MEDICINE

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

(2017) Thais K. Homma et al.   Hormone Research in Paediatrics

Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis

(2017) Chunbo Yang et al.   HUMAN MOLECULAR GENETICS

CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer

(2017) Malachi Griffith et al.   NATURE GENETICS

Settling the score: variant prioritization and Mendelian disease

(2017) Karen Eilbeck et al.   NATURE REVIEWS GENETICS

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

GeneHancer: genome-wide integration of enhancers and target genes in GeneCards

(2017) Simon Fishilevich et al.   Database-The Journal of Biological Databases and Curation

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

(2017) Lídia Feliubadaló et al.   Scientific Reports

Can molecular profiling enhance radiotherapy? Impact of personalized targeted gold nanoparticles on radiosensitivity and imaging of adenoid cystic carcinoma

(2017) Inbal Hazkani et al.   Theranostics

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

(2017) Tiong Yang Tan et al.   JAMA Pediatrics

11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project

(2017) Na Cai et al.   Scientific Data

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

(2016) Gil Stelzer et al.   BMC GENOMICS

Expanding theMYBPC1phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita

(2016) N. Ekhilevitch et al.   CLINICAL GENETICS

A role forTENM1mutations in congenital general anosmia

(2016) A. Alkelai et al.   CLINICAL GENETICS

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

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

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability

(2016) Gali Heimer et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Role of rare germline copy number variation in melanoma-prone patients

(2016) Felipe Fidalgo et al.   Future Oncology

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

(2016) Aaron M. Wenger et al.   GENETICS IN MEDICINE

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

(2016) Zornitza Stark et al.   GENETICS IN MEDICINE

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

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

(2016) Monkol Lek et al.   NATURE

MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search

(2016) Noa Rappaport et al.   NUCLEIC ACIDS RESEARCH

COSMIC: somatic cancer genetics at high-resolution

(2016) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Whole-exome sequencing identifies a somatic missense mutation of NBN in clear cell sarcoma of the salivary gland

(2016) LEI ZHANG et al.   ONCOLOGY REPORTS

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

(2016) Regis A. James et al.   Genome Medicine

A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data

(2016) Jennifer D. Hintzsche et al.   International Journal of Genomics

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

(2015) S.L. Sawyer et al.   CLINICAL GENETICS

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

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

(2015) Jenny C Taylor et al.   NATURE GENETICS

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

(2015) Hui Yang et al.   NATURE METHODS

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

PathCards: multi-source consolidation of human biological pathways

(2015) Frida Belinky et al.   Database-The Journal of Biological Databases and Curation

A Comparison of Variant Calling Pipelines Using Genome in a Bottle as a Reference

(2015) Adam Cornish et al.   Biomed Research International

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

(2014) Marc V. Singleton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

(2014) D. Oz-Levi et al.   CLINICAL GENETICS

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

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

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

Choice of transcripts and software has a large effect on variant annotation

(2014) Davis J McCarthy et al.   Genome Medicine

The Next-Generation Sequencing Revolution and Its Impact on Genomics

(2013) Daniel C. Koboldt et al.   CELL

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

(2013) Vandana Shashi et al.   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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

Non-redundant compendium of human ncRNA genes in GeneCards

(2012) Frida Belinky et al.   BIOINFORMATICS

Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes

(2012) Rui Chen et al.   CELL

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

(2011) Vassili Valayannopoulos et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Hereditary and Familial Colon Cancer

(2010) Kory W. Jasperson et al.   GASTROENTEROLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

The functional impact of structural variation in humans

(2008) Matthew E. Hurles et al.   TRENDS IN GENETICS