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1. Full Text Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
by Lionel, Anath C and Costain, Gregory and Monfared, Nasim and Walker, Susan and Reuter, Miriam S and Hosseini, S. Mohsen and Thiruvahindrapuram, Bhooma and Merico, Daniele and Jobling, Rebekah and Nalpathamkalam, Thomas and Pellecchia, Giovanna and Sung, Wilson W.L and Wang, Zhuozhi and Bikangaga, Peter and Boelman, Cyrus and Carter, Melissa T and Cordeiro, Dawn and Cytrynbaum, Cheryl and Dell, Sharon D and Dhir, Priya and Dowling, James J and Heon, Elise and Hewson, Stacy and Hiraki, Linda and Inbar-Feigenberg, Michal and Klatt, Regan and Kronick, Jonathan and Laxer, Ronald M and Licht, Christoph and MacDonald, Heather and Mercimek-Andrews, Saadet and Mendoza-Londono, Roberto and Piscione, Tino and Schneider, Rayfel and Schulze, Andreas and Silverman, Earl and Siriwardena, Komudi and Snead, O. Carter and Sondheimer, Neal and Sutherland, Joanne and Vincent, Ajoy and Wasserman, Jonathan D and Weksberg, Rosanna and Shuman, Cheryl and Carew, Chris and Szego, Michael J and Hayeems, Robin Z and Basran, Raveen and Stavropoulos, Dimitri J and Ray, Peter N and Bowdin, Sarah and Meyn, M. Stephen and Cohn, Ronald D and Scherer, Stephen W and Marshall, Christian R
Genetics in medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 435 - 443
diagnostics | copy number variation | next-generation sequencing | noncoding | whole-genome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Association Studies - standards | Whole Exome Sequencing - standards | Computational Biology - methods | Genetic Predisposition to Disease | Genetic Testing - standards | Humans | Molecular Sequence Annotation | Genetic Diseases, Inborn - genetics | Genetic Association Studies - methods | Sequence Analysis, DNA - standards | Male | Whole Genome Sequencing - standards | Whole Genome Sequencing - methods | Genetic Testing - methods | Whole Exome Sequencing - methods | DNA Copy Number Variations | Exome | Genetic Variation | Phenotype | Female | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Pediatrics | Genes | Genomes | Index Medicus | Original
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2. Full Text Controversy and debate on clinical genomics sequencing—paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater
by Adam, Shelin and Friedman, Jan M
Journal of clinical epidemiology, ISSN 0895-4356, 12/2017, Volume 92, pp. 7 - 10
Genetic counseling | Genetic testing | Whole genome sequencing | Mendelian disease | Exome sequencing | Incidental findings | Health Care Sciences & Services | Public, Environmental & Occupational Health | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease | Genomics | Humans | Incidental Findings | Male | Genetic Counseling | Genetic Testing - methods | Whole Exome Sequencing | Exome - genetics | Sensitivity and Specificity | Mendelian Randomization Analysis | Female | Genome-Wide Association Study - methods | Genetic Diseases, Inborn - diagnosis | Medical research | Medical genetics | Medicine, Experimental | Genomes | Nucleotide sequencing | DNA sequencing | Medical imaging | Genetic disorders | Disease | Patients | Genetic screening | Gene sequencing | Validity | Genetics | Mutation | Boards of directors | Index Medicus
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3. Full Text Advancements in Next-Generation Sequencing
by Levy, Shawn E and Myers, Richard M
Annual review of genomics and human genetics, ISSN 1527-8204, 8/2016, Volume 17, Issue 1, pp. 95 - 115
exome | whole genome | sequencing | High-Throughput Nucleotide Sequencing - methods | Genomics - trends | High-Throughput Nucleotide Sequencing - trends | Sequence Analysis, DNA - methods | Humans | Genome, Human - genetics | Technology application | Forecasts and trends | Nucleotide sequencing | DNA sequencing | Index Medicus
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4. Full Text Exome and genome sequencing for inborn errors of immunity
by Meyts, Isabelle, MD, PhD and Bosch, Barbara, MD and Bolze, Alexandre, PhD and Boisson, Bertrand, PhD and Itan, Yuval, PhD and Belkadi, Aziz, PhD and Pedergnana, Vincent, PhD and Moens, Leen, PhD and Picard, Capucine, MD, PhD and Cobat, Aurélie, MD, PhD and Bossuyt, Xavier, MD, PhD and Abel, Laurent, MD, PhD and Casanova, Jean-Laurent, MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 4, pp. 957 - 969
Allergy and Immunology | targeted sequencing | primary immunodeficiency | Next-generation sequencing | whole-exome sequencing | whole-genome sequencing | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Genetic Variation | Exome - genetics | Humans | Immunologic Deficiency Syndromes - genetics | Genetic Diseases, Inborn | High-Throughput Nucleotide Sequencing | Genome, Human - genetics | Genetic research | Genomes | Nucleotide sequencing | Genomics | DNA sequencing | Genetic polymorphisms | Studies | Hypotheses | Parents & parenting | Disease | Genes | Quality | Editing | Fibroblasts | Mutation | Index Medicus | Abridged Index Medicus | Targeted sequencing | Whole exome sequencing | Whole genome sequencing | Next generation sequencing | Primary immunodeficiency
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5. Full Text Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics
by van El, Carla G and Cornel, Martina C and Borry, Pascal and Hastings, Ros J and Fellmann, Florence and Hodgson, Shirley V and Howard, Heidi C and Cambon-Thomsen, Anne and Knoppers, Bartha M and Meijers-Heijboer, Hanne and Scheffer, Hans and Tranebjaerg, Lisbeth and Dondorp, Wybo and de Wert, Guido M. W. R and on behalf of the ESHG Public and Professional Policy Committee
European journal of human genetics : EJHG, ISSN 1018-4813, 2013, Volume 21, Issue 6, pp. 580 - 584
Index Medicus
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6. Full Text Noninvasive Prenatal Whole Genome Sequencing: Pregnant Womenʼs Views and Preferences
by Sullivan, Haley K and Bayefsky, Michelle and Wakim, Paul G and Huddleston, Kathi and Biesecker, Barbara B and Hull, Sara Chandros and Berkman, Benjamin E
Obstetrics and gynecology (New York. 1953), ISSN 0029-7844, 03/2019, Volume 133, Issue 3, pp. 525 - 532
Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Noninvasive Prenatal Testing | Fetal Diseases - diagnosis | Humans | Patient Preference | Health Knowledge, Attitudes, Practice | Whole Genome Sequencing | Congenital Abnormalities - diagnosis | Pregnancy | Young Adult | Decision Making, Shared | Adult | Female | Surveys and Questionnaires | Genetic Diseases, Inborn - diagnosis | Patient Education as Topic | Prenatal Care | Decision-making | Surveys | Usage | Pregnant women | Analysis | Nucleotide sequencing | Health aspects | DNA sequencing | Index Medicus | Abridged Index Medicus
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7. Full Text Whole-genome sequencing in health care Recommendations of the European Society of Human Genetics
by van El, Carla G and Cornel, Martina C and Borry, Pascal and Hastings, Ros J and Fellmann, Florence and Hodgson, Shirley V and Howard, Heidi C and Cambon-Thomsen, Anne and Knoppers, Bartha M and Meijers-Heijboer, Hanne and Scheffer, Hans and Tranebjaerg, Lisbeth and Dondorp, Wybo and de Wert, Guido M. W. R and ESHG Public Professional Policy Co and ESHG Public and Professional Policy Committee
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2013, Volume 21, Issue 6, pp. 580 - 584
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Testing | Europe | Humans | Health Planning Guidelines | Genome, Human - genetics | Exome - genetics | Genetics, Medical | Mass Screening | Societies, Medical | Confidentiality | Delivery of Health Care | Family | Sequence Analysis, DNA - methods | Policy | recommendations | whole-genome sequencing
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8. Full Text Human Genome Sequencing in Health and Disease
by Gonzaga-Jauregui, Claudia and Lupski, James R and Gibbs, Richard A
Annual review of medicine, ISSN 0066-4219, 2/2012, Volume 63, Issue 1, pp. 35 - 61
simple nucleotide variation (SNV) | whole-genome sequencing (WGS) | exome sequencing | structural variation | personal genomics | Simple nucleotide variation (SNV) | Personal genomics | Whole-genome sequencing (WGS) | Exome sequencing | Structural variation | Genetic Privacy | HapMap Project | Humans | Genetic Diseases, Inborn - genetics | Genetic Diseases, Inborn - diagnosis | Human Genome Project | Genome, Human - genetics | Research | Nucleotide sequencing | Genetic variation | Genomics | Human genetics | DNA sequencing | Genomes | Biological variation | Genetic disorders | Medical diagnosis | Index Medicus
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