Molecular genetic testing and the future of clinical genomics

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms

(2012) Holly K. Tabor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

One Community’s Effort to Control Genetic Disease

(2012) Kevin A. Strauss et al.   AMERICAN JOURNAL OF PUBLIC HEALTH

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes

(2012) Rui Chen et al.   CELL

Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing

(2012) SB Haga et al.   CLINICAL GENETICS

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts

(2012) Gabrielle M Christenhusz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

(2012) Flavia M Facio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Consumer awareness and attitudes about insurance discrimination post enactment of the Genetic Information Nondiscrimination Act

(2012) Dawn C. Allain et al.   Familial Cancer

Regulating Genetic Tests: Issues That Guide Policy Decisions

(2012) Elizabeth J. Horn et al.   Genetic Testing and Molecular Biomarkers

Association between health-service use and multiplex genetic testing

(2012) Robert J. Reid et al.   GENETICS IN MEDICINE

Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study

(2012) Juli Murphy Bollinger et al.   GENETICS IN MEDICINE

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

(2012) Stephanie M. Fullerton et al.   GENETICS IN MEDICINE

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

(2012) G. J. Swaminathan et al.   HUMAN MOLECULAR GENETICS

OTX2mutations contribute to the otocephaly-dysgnathia complex

(2012) Nicolas Chassaing et al.   JOURNAL OF MEDICAL GENETICS

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Crowdsourced Health Research Studies: An Important Emerging Complement to Clinical Trials in the Public Health Research Ecosystem

(2012) Melanie Swan   JOURNAL OF MEDICAL INTERNET RESEARCH

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

Realizing Genomic Medicine

(2012) Elizabeth G. Phimister et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

(2012) Fernanda dos Santos Pereira et al.   PLoS One

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis

(2012) Marion Phylipsen et al.   PRENATAL DIAGNOSIS

A public resource facilitating clinical use of genomes

(2012) Madeleine P. Ball et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Ultimate Genetic Test

(2012) R. Drmanac   SCIENCE

Whole-Genome Sequencing: The New Standard of Care?

(2012) L. R. Brunham et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Noninvasive Whole-Genome Sequencing of a Human Fetus

(2012) J. O. Kitzman et al.   Science Translational Medicine

The Predictive Capacity of Personal Genome Sequencing

(2012) N. J. Roberts et al.   Science Translational Medicine

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

“Why Do We Have to Learn This Stuff?”—A New Genetics for 21st Century Students

(2012) Rosemary J. Redfield   PLOS BIOLOGY

Chapter 6: Structural Variation and Medical Genomics

(2012) Benjamin J. Raphael   PLoS Computational Biology

Copy Number and SNP Arrays in Clinical Diagnostics

(2011) Christian P. Schaaf et al.   Annual Review of Genomics and Human Genetics

Personalized Medicine: Progress and Promise

(2011) Isaac S. Chan et al.   Annual Review of Genomics and Human Genetics

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

Noonan syndrome and clinically related disorders

(2011) Marco Tartaglia et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Identifying insertion mutations by whole-genome sequencing

(2011) Harold E. Smith   BIOTECHNIQUES

Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies

(2011) R. V. Tiu et al.   BLOOD

The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies

(2011) Catherine A McCarty et al.   BMC Medical Genomics

A Comprehensive Analysis of High School Genetics Standards: Are States Keeping Pace with Modern Genetics?

(2011) M.J. Dougherty et al.   CBE-Life Sciences Education

Exome Sequencing Deciphers Rare Diseases

(2011) Amy Maxmen   CELL

Fluorescence In Situ Hybridization

(2011) Karen D. Tsuchiya   CLINICS IN LABORATORY MEDICINE

Whole exome and whole genome sequencing

(2011) David Bick et al.   CURRENT OPINION IN PEDIATRICS

On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium

(2011) Peter J. Lipman et al.   GENETIC EPIDEMIOLOGY

Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality

(2011) Rebecca L. Zuvich et al.   GENETIC EPIDEMIOLOGY

The advent of personal genome sequencing

(2011) Radoje Drmanac   GENETICS IN MEDICINE

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

A probabilistic disease-gene finder for personal genomes

(2011) M. Yandell et al.   GENOME RESEARCH

Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing

(2011) Ole Skovgaard et al.   GENOME RESEARCH

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

(2011) Joanna Amberger et al.   HUMAN MUTATION

Whole-Genome Sequencing

(2011) Boris Pasche   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genomics Education for Health Care Professionals in the 21st Century

(2011) W. Gregory Feero et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genomic Risk Profiling: Attitudes and Use in Personal and Clinical Care of Primary Care Physicians Who Offer Risk Profiling

(2011) Susanne B. Haga et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

What can exome sequencing do for you?

(2011) J. Majewski et al.   JOURNAL OF MEDICAL GENETICS

Lessons from predictive testing for Huntington disease: 25 years on

(2011) A. K. Hawkins et al.   JOURNAL OF MEDICAL GENETICS

Genomic sequencing in clinical trials

(2011) Karen K Mestan et al.   Journal of Translational Medicine

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

MutaDATABASE: a centralized and standardized DNA variation database

(2011) Sherri Bale et al.   NATURE BIOTECHNOLOGY

Advances in prenatal screening: the ethical dimension

(2011) Antina de Jong et al.   NATURE REVIEWS GENETICS

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Genomics, Health Care, and Society

(2011) Kathy L. Hudson   NEW ENGLAND JOURNAL OF MEDICINE

Lingering questions and doubts: Online information-seeking of support forum members following their medical visits

(2011) Robert A. Bell et al.   PATIENT EDUCATION AND COUNSELING

Ethical considerations for pharmacogenomic testing in pediatric clinical care and research

(2011) Cassandra Moran et al.   PHARMACOGENOMICS

Comparison of Three Targeted Enrichment Strategies on the SOLiD Sequencing Platform

(2011) Dale J. Hedges et al.   PLoS One

Genomic Risk Profiling of Ischemic Stroke: Results of an International Genome-Wide Association Meta-Analysis

(2011) James F. Meschia et al.   PLoS One

The General Public’s Understanding and Perception of Direct-to-Consumer Genetic Test Results

(2011) J.W. Leighton et al.   Public Health Genomics

Whole-Genome Sequencing for Optimized Patient Management

(2011) M. N. Bainbridge et al.   Science Translational Medicine

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems

(2011) André E Minoche et al.   GENOME BIOLOGY

Commentary: Personalized Health Planning and the Patient Protection and Affordable Care Act: An Opportunity for Academic Medicine to Lead Health Care Reform

(2010) Michaela A. Dinan et al.   ACADEMIC MEDICINE

A genetic approach to stratification of risk for age-related macular degeneration

(2010) Brent Zanke et al.   CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE

C. elegans as a model organism for in vivo screening in cancer: effects of human c-Met in lung cancer affect C. elegans vulva phenotypes

(2010) Shahid S. Siddiqui et al.   CANCER BIOLOGY & THERAPY

Concordance Study of 3 Direct-to-Consumer Genetic-Testing Services

(2010) K. Imai et al.   CLINICAL CHEMISTRY

Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: Comparing breast and ovarian cancers with colon cancers

(2010) Robert Cook-Deegan et al.   GENETICS IN MEDICINE

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

A timely arrival for genomic medicine

(2010) Alan N Mayer et al.   GENETICS IN MEDICINE

Loss-of-function variants in the genomes of healthy humans

(2010) D. G. MacArthur et al.   HUMAN MOLECULAR GENETICS

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

(2010) J. Rios et al.   HUMAN MOLECULAR GENETICS

Massively parallel sequencing and rare disease

(2010) S. B. Ng et al.   HUMAN MOLECULAR GENETICS

A window into third-generation sequencing

(2010) E. E. Schadt et al.   HUMAN MOLECULAR GENETICS

Parent Opinions Regarding the Genetic Testing of Minors forBRCA1/2

(2010) Angela R. Bradbury et al.   JOURNAL OF CLINICAL ONCOLOGY

The Prospect of Genome-guided Preventive Medicine: A Need and Opportunity for Genetic Counselors

(2010) Julianne M. O’Daniel   Journal of Genetic Counseling

Sharing Health Data for Better Outcomes on PatientsLikeMe

(2010) Paul Wicks et al.   JOURNAL OF MEDICAL INTERNET RESEARCH

SeqSharp

(2010) Dhruba J. SenGupta et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches

(2010) A. D. LAURIE et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

DNA patents and diagnostics: not a pretty picture

(2010) Julia Carbone et al.   NATURE BIOTECHNOLOGY

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

(2010) Anne-Christine Merveille et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

(2010) J. A. Blake et al.   NUCLEIC ACIDS RESEARCH

Applications of Array Comparative Genomic Hybridization in Obstetrics

(2010) Gary Fruhman et al.   OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA

Consistently Estimating Absolute Risk Difference when Translating Evidence to Jurisdictions of Interest

(2010) Simon Eckermann et al.   PHARMACOECONOMICS

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

(2010) N. A. Zaghloul et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Functional modules, mutational load and human genetic disease

(2010) Norann A. Zaghloul et al.   TRENDS IN GENETICS

MLPA for confirmation of array CGH results and determination of inheritance

(2010) Alison Hills et al.   Molecular Cytogenetics

The Characterization of Twenty Sequenced Human Genomes

(2010) Kimberly Pelak et al.   PLoS Genetics

Public Perspectives on Informed Consent for Biobanking

(2009) Juli Murphy et al.   AMERICAN JOURNAL OF PUBLIC HEALTH

Consent for use of personal information for health research: Do people with potentially stigmatizing health conditions and the general public differ in their opinions?

(2009) Donald J Willison et al.   BMC Medical Ethics

Health-related Internet use by patients with somatic diseases: Frequency of use and characteristics of users

(2009) Cornelia F. van Uden-Kraan et al.   Informatics for Health & Social Care

Using the Internet for Health-Related Activities: Findings From a National Probability Sample

(2009) Nancy L Atkinson et al.   JOURNAL OF MEDICAL INTERNET RESEARCH

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

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

The futility of genomic counseling: essential role of electronic health records

(2009) John Belmont et al.   Genome Medicine

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Public Expectations for Return of Results from Large-Cohort Genetic Research

(2008) Juli Murphy et al.   AMERICAN JOURNAL OF BIOETHICS

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New applications and developments in the use of multiplex ligation-dependent probe amplification

(2008) Piotr Kozlowski et al.   ELECTROPHORESIS

Subjects matter: a survey of public opinions about a large genetic cohort study

(2008) David Kaufman et al.   GENETICS IN MEDICINE

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Evaluation of in silico splice tools for decision-making in molecular diagnosis

(2008) Claude Houdayer et al.   HUMAN MUTATION

European Practices of Genetic Information and Insurance

(2008) Ine Van Hoyweghen et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Personal genomes: Standard and pores

(2008) Katharine Sanderson   NATURE

The potential and challenges of nanopore sequencing

(2008) Daniel Branton et al.   NATURE BIOTECHNOLOGY

From genetic privacy to open consent

(2008) Jeantine E. Lunshof et al.   NATURE REVIEWS GENETICS

Clinical Genomic Testing: Getting It Right

(2008) Pamela S. Douglas et al.   Journal of Cardiovascular Translational Research