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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. Use of exome sequencing for infants in intensive care units ascertainment of severe single-gene disorders and effect on medical management
by Meng, Linyan and Pammi, Mohan and Saronwala, Anirudh and Magoulas, Pilar and Ghazi, Andrew Ray and Vetrini, Francesco and Zhang, Jing and He, Weimin and Dharmadhikari, Avinash V and Qu, Chunjing and Ward, Patricia and Braxton, Alicia and Narayanan, Swetha and Ge, Xiaoyan and Tokita, Mari J and Santiago-Sim, Teresa and Dai, Hongzheng and Chiang, Theodore and Smith, Hadley and Azamian, Mahshid S and Robak, Laurie and Bostwick, Bret L and Schaaf, Christian P and Potocki, Lorraine and Scaglia, Fernando and Bacino, Carlos A and Hanchard, Neil A and Wangler, Michael F and Scott, Daryl and Brown, Chester and Hu, Jianhong and Belmont, John W and Burrage, Lindsay C and Graham, Brett H and Sutton, Vernon Reid and Craigen, William J and Plon, Sharon E and Lupski, James R and Beaudet, Arthur L and Gibbs, Richard A and Muzny, Donna M and Miller, Marcus J and Wang, Xia and Leduc, Magalie S and Xiao, Rui and Liu, Pengfei and Shaw, Chad and Walkiewicz, Magdalena and Bi, Weimin and Xia, Fan and Lee, Brendan and Eng, Christine M and Yang, Yaping and Lalani, Seema R
JAMA pediatrics, ISSN 2168-6203, 12/2017, Volume 171, Issue 12, p. e173438
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Critical Care - methods | Infant Care - methods | Humans | Genetic Diseases, Inborn - genetics | Genetic Counseling - methods | Infant | Intensive Care Units, Pediatric | Genetic Diseases, Inborn - therapy | Whole Exome Sequencing - methods | Exome | Texas | Adult | Disease Management | Retrospective Studies | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Length of Stay - statistics & numerical data
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3. Full Text Prediction and prioritization of neoantigens: integration of RNA sequencing data with whole‐exome sequencing
by Karasaki, Takahiro and Nagayama, Kazuhiro and Kuwano, Hideki and Nitadori, Jun‐ichi and Sato, Masaaki and Anraku, Masaki and Hosoi, Akihiro and Matsushita, Hirokazu and Takazawa, Masaki and Ohara, Osamu and Nakajima, Jun and Kakimi, Kazuhiro
Cancer science, ISSN 1347-9032, 02/2017, Volume 108, Issue 2, pp. 170 - 177
neoantigen | whole‐exome sequencing | RNA‐Seq | Lung cancer | next‐generation sequencing | next-generation sequencing | RNA-Seq | whole-exome sequencing | Life Sciences & Biomedicine | Oncology | Science & Technology | Adenocarcinoma | Lung Neoplasms - genetics | Microarray Analysis - methods | T-Lymphocytes, Cytotoxic - immunology | Antigens, Neoplasm - genetics | Gene Expression | Carcinoma, Non-Small-Cell Lung - genetics | Humans | RNA, Messenger - genetics | Male | Histocompatibility Antigens Class I - genetics | Mutation, Missense | Carcinoma, Non-Small-Cell Lung - immunology | Exome | Sequence Analysis, RNA - methods | Lung Neoplasms - immunology | Algorithms | Adult | Aged | Antigens, Neoplasm - analysis | High-Throughput Nucleotide Sequencing - methods | DNA, Complementary | RNA sequencing | Messenger RNA | Lung cancer, Non-small cell | Gene expression | Tumor antigens | Analysis | Candidates | Transcription | Peptides | Nucleotide sequence | Genomes | Biological assays | Patients | Studies | Missense mutation | Major histocompatibility complex | Gene frequency | Information processing | Software | Mutation | Deoxyribonucleic acid--DNA | Cancer | Tumors | Index Medicus | Original
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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 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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6. Full Text Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
by Lord, Jenny and McMullan, Dominic J and Eberhardt, Ruth Y and Rinck, Gabriele and Hamilton, Susan J and Quinlan-Jones, Elizabeth and Prigmore, Elena and Carey, Georgina K and Mellis, Rhiannon and Robart, Sarah and Berry, Ian R and Chandler, Kate E and Cilliers, Deirdre and Cresswell, Lara and Edwards, Sandra L and Gardiner, Carol and Henderson, Alex and Holden, Simon T and Homfray, Tessa and Lester, Tracy and Newbury-Ecob, Ruth and Prescott, Katrina and Quarrell, Oliver W and Ramsden, Simon C and Roberts, Eileen and Tapon, Dagmar and Tooley, Madeleine J and Vasudevan, Pradeep C and Weber, Astrid P and Wellesley, Diana G and Westwood, Paul and White, Helen and Parker, Michael and Williams, Denise and Jenkins, Lucy and Scott, Richard H and Kilby, Mark D and Chitty, Lyn S and Hurles, Matthew E and Maher, Eamonn R and Bateman, Mark and Best, Sunayna K and Campbell, Carolyn and Carey, Georgina and Chitty, Lyn S and Cilliers, Deirdre and Cohen, Kelly and Collingwood, Emma and Constantinou, Panayiotis and Cresswell, Lara and Delmege, Catherine and Edwards, Sandra L and Ellis, Richard and Evans, Jerry and Everett, Thomas and Pinto, Clare F and Forrester, Natalie and Fowler, Emma and Gardiner, Carol and Hamilton, Susan and Healey, Karen and Henderson, Alex and Holden, Simon T and Homfray, Tessa and Hudson, Rebecca and Hurles, Matthew E and Jenkins, Lucy and Keelagher, Rebecca and Kilby, Mark D and Lester, Tracey and Lewis, Rebecca and Lord, Jenny and Maher, Eamonn R and Marton, Tamas and McMullan, Dominic J and Mehta, Sarju and Mellis, Rhiannon and Newbury-Ecob, Ruth and Park, Soo-Mi and Parker, Michael and Prescott, Katrina and Prigmore, Elena and Quarrell, Oliver W and Quinlan-Jones, Elizabeth and Ramsden, Simon C and Rinck, Gabriele and Robart, Sarah and Roberts, Eileen and Rowland, Jayne and Steer, James and Tapon, Dagmar and Taylor, Emma J and Tooley, Madeleine J and Vasudevan, Pradeep C and Weber, Astrid P and Wellesley, Diana G and Westwood, Paul and White, Helen and Williams, Denise and Wilson, Elizabeth and Prenatal Assessment of Genomes and Exomes Consortium and Prenatal Assessment Genomes Exomes
The Lancet (British edition), ISSN 0140-6736, 02/2019, Volume 393, Issue 10173, pp. 747 - 757
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Fetus - abnormalities | Congenital Abnormalities - epidemiology | Fetus - diagnostic imaging | Prospective Studies | Humans | Parents | Perinatal Death - etiology | Male | DNA Copy Number Variations - genetics | Whole Exome Sequencing - methods | Abnormal Karyotype - embryology | Congenital Abnormalities - diagnosis | Pregnancy | Abortion, Spontaneous - epidemiology | Congenital Abnormalities - genetics | Nuchal Translucency Measurement | Stillbirth - epidemiology | Abnormal Karyotype - statistics & numerical data | Female | Live Birth - epidemiology | Fetal Development - genetics | Abortion, Eugenic - statistics & numerical data | Infant, Newborn | Whole Exome Sequencing - statistics & numerical data | Ultrasound imaging | Pregnant women | Heart | Intellectual disabilities | Copy number | Genes | Disorders | Prenatal development | Aneuploidy | Genomes | Gestation | Microcephaly | Genetic screening | Gene sequencing | Disability | Proteins | Parents & parenting | Ultrasonic imaging | Next-generation sequencing | Scoliosis | Heart diseases | Ultrasound | Deoxyribonucleic acid--DNA | Phenotypes | Congenital diseases | Research & development--R&D | Fetuses | Abnormalities | Birth defects | Heredity | Hearing impairment | Coronary artery disease | Genetic variance | DNA microarrays | Gene frequency | Diagnostic systems | Cardiovascular diseases | Anomalies | Index Medicus | Abridged Index Medicus
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7. Full Text Next-Generation Sequencing Demands Next-Generation Phenotyping
by Hennekam, Raoul C. M and Biesecker, Leslie G
Human mutation, ISSN 1059-7794, 2012, Volume 33, Issue 5, pp. 884 - 886
phenotype | dysmorphology | Mendelian | whole‐genome sequencing | NGS | whole‐exome sequencing | monogenic | Wholegenome sequencing | Phenotype | Dysmorphology | Whole-exome sequencing | Monogenic | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genome-Wide Association Study | Molecular Diagnostic Techniques | Genetics, Medical | Humans | Translational Medical Research | High-Throughput Nucleotide Sequencing | Index Medicus | whole genome sequencing | whole exome sequencing
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8. Full Text The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders
by Jiao, Qingguo and Sun, Haiming and Zhang, Haoya and Wang, Ran and Li, Suting and Sun, Dan and Yang, Xiu‐An and Jin, Yan
Clinical genetics, ISSN 0009-9163, 08/2019, Volume 96, Issue 2, pp. 140 - 150
copy number variation sequencing | targeted next‐generation sequencing panels | whole‐exome sequencing | diagnostic yield | neurological disorders | targeted next-generation sequencing panels | whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Nervous system diseases | Diagnosis | Seizures (Medicine) | Children | Health aspects | Neurological diseases | Pediatrics | Copy number | Sodium channels (voltage-gated) | Patients | Neurological disorders | Seizures | Index Medicus
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