Exome Study Reveals Novel Disease-Linked Alleles | & MORE | Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

Last Posted: Dec-23-2016 2PM

 Whole Exome Sequencingcollapsed collapsed

Exome Study Reveals Novel Disease-Linked Alleles
A Azvolinsky, the Scientist, December 23, 2016

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
FE Dewey et al, Science, December 22, 2016

“Pheno”menal value for human health
DJ Rader et al, Science, December 22, 2016

More information on this topic

Publication	Product Type	Category
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. Zazo Seco Celia et al. European journal of human genetics : EJHG 2016 Dec	Original Studies [A]	Birth Defects/Child Health
Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing. Gallo Vera et al. Frontiers in immunology 2016 7466	Original Studies [A]	Birth Defects/Child Health
Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling. Smith Lacey A et al. Journal of genetic counseling 2015 Aug 24(4) 654-62	Original Studies [A]	Practice
The cancer precision medicine knowledge base for structured clinical-grade mutations and interpretations. Huang Linda et al. Journal of the American Medical Informatics Association : JAMIA 2016 Oct	Tools/ Concepts/Methods / Training / Education/ Decision Support [D]	Cancer
Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing. van Nimwegen Kirsten J M et al. Clinical chemistry 2016 Nov 62(11) 1458-1464	Research Synthesis / Modeling / Meta Analysis/ Systematic reviews [B]	Practice
Regulating whole exome sequencing as a diagnostic test. Lapin Valentina et al. Human genetics 2016 Jun 135(6) 655-73	Reviews/Commentaries [E]	Ethics/Policy/Law
Content Analysis of Informed Consent for whole Genome Sequencing Offered by Direct-to-Consumer Genetic testing Companies. Niemiec Emilia et al. Human mutation 2016 Sep	Original Studies [A]	Practice
Advances in genetics: widening our understanding of prostate cancer. Pine Angela C et al. F1000Research 2016 5	Reviews/Commentaries [E]	Cancer
The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges. Landis Benjamin J et al. Frontiers in cardiovascular medicine 2016 322	Reviews/Commentaries [E]	Cardiovascular Diseases
Prenatal Whole Exome Sequencing; the Views of Clinicians, Scientists, Genetic Counsellors and Patient Representatives. Quinlan-Jones Elizabeth et al. Prenatal diagnosis 2016 Aug	Original Studies [A]	Reproductive Health
Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians. Roggenbuck Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug	Reviews/Commentaries [E]	Chronic Disease
Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views. Bertier Gabrielle et al. BMC medical genomics 2016 9(1) 52	Research Synthesis / Modeling / Meta Analysis/ Systematic reviews [B]	Practice
Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing. Okazaki Tetsuya et al. Yonago acta medica 2016 Jun 59(2) 118-25	Original Studies [A]	Practice
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. Al-Shamsi Aisha et al. Orphanet journal of rare diseases 2016 11(1) 94	Original Studies [A]	Birth Defects/Child Health
The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice. Nguyen M T et al. Clinical genetics 2015 Oct 88(4) 313-9	Original Studies [A]	Practice
Comparison of genome sequencing and clinical genotyping for pharmacogenes. Yang Wenjian et al. Clinical pharmacology and therapeutics 2016 Jun	Original Studies [A]	Pharmacogenomics
Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome. Burgos Mariana et al. Molecular diagnosis & therapy 2016 Jun	Original Studies [A]	Cardiovascular Diseases
Development and clinical application of an integrative genomic approach to personalized cancer therapy. Uzilov Andrew V et al. Genome medicine 2016 8(1) 62	Original Studies [A]	Cancer
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing. Mandelker Diana et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 May	Tools/ Concepts/Methods / Training / Education/ Decision Support [D]	Practice
Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments. Rivadeneira Fernando et al. Trends in endocrinology and metabolism: TEM 2016 May 27(5) 262-81	Reviews/Commentaries [E]	Chronic Disease
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Maxwell Kara N et al. American journal of human genetics 2016 May 98(5) 801-17	Original Studies [A]	Cancer
Whole-Exome Sequencing in Familial Parkinson Disease. Farlow Janice L et al. JAMA neurology 2015 Nov 1-8	Reviews/Commentaries [E]	NA
Whole-exome sequencing and its impact in hereditary hearing loss. Atik Tahir et al. Genet Res (Camb) 2015 e4	Reviews/Commentaries [E]	NA
Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients MM Gorski et al, Blood, March, 2016	Original Studies [A]	NA
Molecular findings among patients referred for clinical whole-exome sequencing. Yang Yaping et al. JAMA 2014 Nov 12. (18) 1870-9	Original Studies [A]	NA
The challenge of consent in clinical genome-wide testing. Burke Katherine et al. Archives of disease in childhood 2016 Apr	Reviews/Commentaries [E]	Ethics/Policy/Law
Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases. Krabbenborg Lotte et al. Journal of genetic counseling 2016 Apr	Original Studies [A]	Birth Defects/Child Health
IMPACT: a whole-exome sequencing analysis pipeline for integrating molecular profiles with actionable therapeutics in clinical samples. Hintzsche Jennifer et al. Journal of the American Medical Informatics Association : JAMIA 2016 Mar	Original Studies [A]	Cancer
A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children. Beale Sophie et al. Health technology assessment (Winchester, England) 2015 Jun 19(46) 1-90	Original Studies [A]	Birth Defects/Child Health
Ethical issues in consumer genome sequencing: Use of consumers' samples and data. Niemiec Emilia et al. Applied & translational genomics 2016 Mar 823-30	Reviews/Commentaries [E]	Ethics/Policy/Law
Genetic testing: Whole-exome sequencing for clinical diagnostics. Koch Linda et al. Nature reviews. Genetics 2016 Mar	Reviews/Commentaries [E]	Practice
Medical implications of technical accuracy in genome sequencing. Goldfeder Rachel L et al. Genome medicine 2016 8(1) 24	Original Studies [A]	Practice
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Stark Zornitza et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar	Original Studies [A]	Birth Defects/Child Health
Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research. Souzeau Emmanuelle et al. Translational vision science & technology 2016 Feb 5(1) 3	Reviews/Commentaries [E]	Ethics/Policy/Law
Whole-exome sequencing: A rational approach for 'diagnostic odyssey' patients, Medical Xpress, March 1, 2016	Reviews/Commentaries [E]	News/ Reviews/Comments
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. Pua Chee Jian et al. Journal of cardiovascular translational research 2016 Feb	Original Studies [A]	Cardiovascular Diseases
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. Rosell Allyn McConkie et al. Journal of genetic counseling 2016 Feb	Original Studies [A]	Birth Defects/Child Health
Oncologists' and cancer patients' views on whole-exome sequencing and incidental findings: results from the CanSeq study. Gray Stacy W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Feb	Original Studies [A]	Cancer
Next-Generation Sequencing: Targeted Panels Versus Whole Exome Sequencing, by Jeffrey Briggs, Mayo Clinic, February 11, 2016	Reviews/Commentaries [E]	News/ Reviews/Comments
Implications of direct-to-consumer whole-exome sequencing in South Africa. Lombard Zané et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2016 106(2) 139-40	Reviews/Commentaries [E]	Practice
Diagnostic odyssey in severe neurodevelopmental disorders: Towards clinical whole-exome sequencing as a first-line diagnostic test. Thevenon Julien et al. Clinical genetics 2016 Jan	Original Studies [A]	Birth Defects/Child Health
Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation. Carey John C et al. Indian journal of pediatrics 2016 Jan	Reviews/Commentaries [E]	Birth Defects/Child Health
Clinical application of whole-exome sequencing across clinical indications. Retterer Kyle et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec	Original Studies [A]	Practice
Molecular diagnostic experience of whole-exome sequencing in adult patients. Posey Jennifer E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec	Original Studies [A]	Practice
Cigna rolls out new coverage policy for whole exome sequencing,  By Emily Wasserman, Fierce Medical Devices, November 24, 2015	Reviews/Commentaries [E]	News/ Reviews/Comments
Precision medicine ethics: selected issues and developments in next-generation sequencing, clinical oncology, and ethics. Fiore Robin N et al. Current opinion in oncology 2015 Nov	Reviews/Commentaries [E]	Ethics/Policy/Law
Challenges of using next generation sequencing in newborn screening. Reinstein Eyal et al. Genetics research 2015 97e21	Reviews/Commentaries [E]	Newborn Screening
Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors. McCullough Laurence B et al. Pediatric blood & cancer 2015 Oct	Original Studies [A]	Cancer
Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adults. Pillar Nir et al. Molecular genetics & genomic medicine 2015 Sep 3(5) 433-9	Original Studies [A]	Practice
Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes. Lindor Noralane M et al. Mayo Clinic proceedings 2015 Oct 90(10) 1327-37	Original Studies [A]	Practice
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories. Wang Jinlian et al. Genome Med 2015 7(1) 77	Tools/ Concepts/Methods / Training / Education/ Decision Support [D]	Practice
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder Tammimies K, et al. JAMA. 2015;314(9):895-903	Original Studies [A]	Birth Defects/Child Health
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Bayer D K et al. Clin. Exp. Immunol. 2014 Dec 178(3) 459-69	Other [Other]	CDC-Authored Genomics Publications
Military Health Care Dilemmas and Genetic Discrimination: A Family's Experience with Whole Exome Sequencing. Helm Benjamin M et al. Narrat Inq Bioeth 2015 5(2) 179-86	Reviews/Commentaries [E]	Ethics/Policy/Law
One Size Doesn't Fit All - RefEditor: Building Personalized Diploid Reference Genome to Improve Read Mapping and Genotype Calling in Next Generation Sequencing Studies. Yuan Shuai et al. PLoS Comput. Biol. 2015 Aug 11(8) e1004448	Tools/ Concepts/Methods / Training / Education/ Decision Support [D]	Tools/Databases
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Sawyer Sarah L et al. Clin. Genet. 2015 Aug 18.	Original Studies [A]	Practice
Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing. Arora Shubhangi et al. J Genet Couns 2015 Aug 19.	Original Studies [A]	Practice
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience. Valencia C Alexander et al. Front Pediatr 2015 367	Original Studies [A]	Birth Defects/Child Health
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. Westerfield Lauren E et al. Prenat. Diagn. 2015 Aug 15.	Original Studies [A]	Reproductive Health
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Chong Jessica X et al. Am. J. Hum. Genet. 2015 Aug 6. 97(2) 199-215	Reviews/Commentaries [E]	Practice
Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing. Wynn Julia et al. J Genet Couns 2015 Aug 5.	Reviews/Commentaries [E]	Practice
Secondary findings and carrier test frequencies in a large multiethnic sample. Gambin Tomasz et al. Genome Med 2015 7(1) 54	Original Studies [A]	Practice
Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting. Ziganshin Bulat A et al. Ann. Thorac. Surg. 2015 Jul 15.	Original Studies [A]	Chronic Disease
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases. Genome Biol. 2015 16(1) 134	Original Studies [A]	Practice
PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. Le Dung T et al. N. Engl. J. Med. 2015 May 30.	Original Studies [A]	Cancer
Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response Beltran H, et al. JAMA Oncol. 2015 May 28	Original Studies [A]	Cancer
Genetic testing of korean familial hypercholesterolemia using whole-exome sequencing. Han Soo Min et al. PLoS ONE 2015 10(5) e0126706	Original Studies [A]	Chronic Disease
Evaluating a counseling strategy for diagnostic WES in pediatric neurology; an exploration of parents' information and communication needs. Krabbenborg Lotte et al. Clin. Genet. 2015 Apr 28.	Original Studies [A]	Birth Defects/Child Health
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Drew Alexander P et al. Mol Genet Genomic Med 2015 Mar 3(2) 143-54	Original Studies [A]	Practice
Familial Spontaneous Coronary Artery Dissection: Evidence for Genetic Susceptibility. Goel Kashish et al. JAMA Intern Med 2015 Mar 23.	Original Studies [A]	Chronic Disease
Whole exome sequencing of suspected mitochondrial patients in clinical practice. Wortmann Saskia B, et al. J. Inherit. Metab. Dis. 2015 3 4.	Original Studies [A]	Practice
Utility of Next Generation Sequencing Technologies for the Efficient Genetic Resolution of Haematological Disorders. Zhang Jianguo, et al. Clin. Genet. 2015 2 20.	Original Studies [A]	Cancer
New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, A Web-based Tool for Linking Investigators with an Interest in the Same Gene. Sobreira Nara, et al. Hum. Mutat. 2015 2 14.	Tools/ Concepts/Methods / Training / Education/ Decision Support [D]	Practice
Practical Considerations in the Clinical Application of Whole Exome Sequencing. Shashi V, et al. Clin. Genet. 2015 2 12.	Original Studies [A]	Practice
Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes. Howard Heidi Carmen, et al. European journal of human genetics : EJHG 2015 1	Guidelines/ Policies / Recommendations [C]	Newborn Screening
Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes. Gallego CJ, et al. Contemporary clinical trials 2014 9 (1) 1	Tools/ Concepts/Methods / Training / Education/ Decision Support [D]	NA
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine. Van Allen EM, et al. Nature medicine 2014 6 (6) 6	Original Studies [A]	NA
Laboratory policies on reporting secondary findings in clinical whole exome sequencing: initial uptake of the ACMG's recommendations. Hufnagel SB, et al. American journal of medical genetics. Part A 2014 5 (5) 5	Original Studies [A]	NA
Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing. Hitch K, et al. Journal of genetic counseling 2014 8 (4) 4	Original Studies [A]	NA
Whole-exome sequencing emerges as clinical diagnostic tool: testing method proves useful for diagnosing wide range of genetic disorders. Levenson D, et al. American journal of medical genetics. Part A 2014 1 (1) 1	Original Studies [A]	NA
"Would you test your children without their consent?" and other sticky dilemmas in the field of cancer genetic testing. Brierley KL, et al. Familial cancer 2014 9 (3) 3	Original Studies [A]	NA
Genomic counseling in the newborn period: experiences and views of genetic counselors. Nardini MD, et al. Journal of genetic counseling 2014 8 (4) 4	Original Studies [A]	NA
Stakeholders' opinions on the implementation of pediatric whole exome sequencing: implications for informed consent. Levenseller BL, et al. Journal of genetic counseling 2014 8 (4) 4	Original Studies [A]	NA
Making headway with genetic diagnostics of intellectual disabilities. Willemsen MH, et al. Clinical genetics 2014 2 (2) 2	Original Studies [A]	NA
Updates in the genetic evaluation of the child with global developmental delay or intellectual disability. Flore LA, et al. Seminars in pediatric neurology 2012 12 (4) 4	Research Synthesis / Modeling / Meta Analysis/ Systematic reviews [B]	NA
Applying Genomic Analysis to Newborn Screening. Solomon BD, et al. Molecular syndromology 2012 8 (2) 2	Original Studies [A]	NA
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes. Le Gallo M, et al. Nature genetics 2012 12 (12) 12	Original Studies [A]	NA
Personalized genomic disease risk of volunteers. Gonzalez-Garay ML, et al. Proceedings of the National Academy of Sciences of the United States of America 2013 10 (42) 42	Original Studies [A]	NA
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Ohba C, et al. Neurogenetics 2013 11 (3-4) 3-4	Original Studies [A]	NA
The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Gelb B, et al. Circulation research 2013 2 (4) 4	Original Studies [A]	NA
Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease. Choi BO, et al. Human mutation 2012 11 (11) 11	Original Studies [A]	NA