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science & technology (1020) 1020
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1. 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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2. 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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3. Full Text A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
by Vissers, L.E.L.M and Nimwegen, K.J.M. van and Schieving, J.H and Kamsteeg, E.J and Kleefstra, T and Yntema, H.G and Pfundt, R.P and Wilt, G.J. van der and Krabbenborg, L and Brunner, H.G and Burg, S. van der and Grutters, J.P and Veltman, J.A and Willemsen, M.A.A.P
Genetics in medicine, ISSN 1098-3600, 2017, Volume 19, Issue 9, pp. 1055 - 1063
pediatric neurology | Prospective Clinical Utility Study | whole-exome sequencing | diagnostic yield | health-care resource use | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Testing - statistics & numerical data | Humans | Child, Preschool | Infant | Male | Patient Acceptance of Health Care - statistics & numerical data | Genetic Testing - methods | Whole Exome Sequencing - methods | Standard of Care - economics | Standard of Care - statistics & numerical data | Standard of Care - standards | Pediatrics - statistics & numerical data | Cost-Benefit Analysis | Pediatrics - methods | Adolescent | Female | Neurology - methods | Neurology - statistics & numerical data | Child | Whole Exome Sequencing - statistics & numerical data | Neurology | Pediatrics | Index Medicus | Original
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4. Full Text Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants
by Manickam, Kandamurugu and Buchanan, Adam H and Schwartz, Marci L. B and Hallquist, Miranda L. G and Williams, Janet L and Rahm, Alanna Kulchak and Rocha, Heather and Savatt, Juliann M and Evans, Alyson E and Butry, Loren M and Lazzeri, Amanda L and Lindbuchler, D'Andra M and Flansburg, Carroll N and Leeming, Rosemary and Vogel, Vitor G and Lebo, Matthew S and Mason-Suares, Heather M and Hoskinson, Derick C and Abul-Husn, Noura S and Dewey, Frederick E and Overton, John D and Reid, Jeffrey G and Baras, Aris and Willard, Huntington F and McCormick, Cara Z and Krishnamurthy, Sarath B and Hartzel, Dustin N and Kost, Korey A and Lavage, Daniel R and Sturm, Amy C and Frisbie, Lauren R and Person, T. Nate and Metpally, Raghu P and Giovanni, Monia A and Lowry, Lacy E and Leader, Joseph B and Ritchie, Marylyn D and Carey, David J and Justice, Anne E and Kirchner, H. Lester and Faucett, W. Andrew and Williams, Marc S and Ledbetter, David H and Murray, Michael F
JAMA network open, ISSN 2574-3805, 09/2018, Volume 1, Issue 5, pp. e182140 - e182140
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological Specimen Banks - statistics & numerical data | Cross-Sectional Studies | Early Detection of Cancer - methods | Biomarkers, Tumor - analysis | Humans | Middle Aged | Male | Whole Exome Sequencing - methods | Pennsylvania | Biomarkers, Tumor - blood | BRCA1 Protein - genetics | Exome - genetics | BRCA1 Protein - analysis | Virulence - genetics | BRCA2 Protein - analysis | Aged, 80 and over | Adult | Female | Aged | BRCA2 Protein - genetics | Whole Exome Sequencing - statistics & numerical data | Index Medicus
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5. Full Text Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
by Barbitoff, Yury A and Polev, Dmitrii E and Glotov, Andrey S and Serebryakova, Elena A and Shcherbakova, Irina V and Kiselev, Artem M and Kostareva, Anna A and Glotov, Oleg S and Predeus, Alexander V
Scientific reports, ISSN 2045-2322, 02/2020, Volume 10, Issue 1, pp. 2057 - 2057
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Regression Analysis | Base Sequence - genetics | Data Interpretation, Statistical | Exome - genetics | Whole Genome Sequencing - statistics & numerical data | Humans | Models, Genetic | High-Throughput Nucleotide Sequencing - statistics & numerical data | Open Reading Frames - genetics | Machine Learning | Genome, Human - genetics | Whole Exome Sequencing - statistics & numerical data | Learning algorithms | Genomes | Nucleotide sequence | Statistics | Index Medicus
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6. Full Text EthSEQ: Ethnicity annotation from whole exome sequencing data
by Romanel, Alessandro and Zhang, Tuo and Elemento, Olivier and Demichelis, Francesca
Bioinformatics, ISSN 1367-4803, 08/2017, Volume 33, Issue 15, pp. 2402 - 2404
Statistics & Probability | Biochemistry & Molecular Biology | Physical Sciences | Computer Science, Interdisciplinary Applications | Life Sciences & Biomedicine | Technology | Biochemical Research Methods | Computer Science | Mathematics | Biotechnology & Applied Microbiology | Science & Technology | Mathematical & Computational Biology | Genetics, Population - methods | Humans | Population Groups | Molecular Sequence Annotation - methods | Software | Genomics - methods | Whole Exome Sequencing - methods | Index Medicus | Applications Notes
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7. Full Text Clinical whole‐exome sequencing results impact medical management
by Niguidula, Nancy and Alamillo, Christina and Shahmirzadi Mowlavi, Layla and Powis, Zöe and Cohen, Julie S and Farwell Hagman, Kelly D
Molecular genetics & genomic medicine, ISSN 2324-9269, 11/2018, Volume 6, Issue 6, pp. 1068 - 1078
diagnostic exome sequencing | diagnostic odyssey | whole‐exome sequencing | clinical utility | medical management | whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Facilities and Services Utilization | Genetic Testing - statistics & numerical data | Humans | Middle Aged | Child, Preschool | Male | Adolescent | Aged, 80 and over | Adult | Female | Aged | Disease Management | Child | Whole Exome Sequencing - statistics & numerical data | Surveys | Health care | Health services | Test procedures | Diagnostic systems | Management | Patients | Gene sequencing | Index Medicus
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8. Full Text Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing
by Mattick, John S and Dinger, Marcel and Schonrock, Nicole and Cowley, Mark
Medical journal of Australia, ISSN 0025-729X, 09/2018, Volume 209, Issue 5, pp. 197 - 199
Medical genetics | Whole Genome Sequencing - statistics & numerical data | Genetic Diseases, Inborn - diagnosis | Genetic Testing - methods | Humans | Whole Exome Sequencing - statistics & numerical data | Index Medicus
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9. Full Text Mosdepth: quick coverage calculation for genomes and exomes
by Pedersen, Brent S and Quinlan, Aaron R
Bioinformatics, ISSN 1367-4803, 03/2018, Volume 34, Issue 5, pp. 867 - 868
Statistics & Probability | Biochemistry & Molecular Biology | Physical Sciences | Computer Science, Interdisciplinary Applications | Life Sciences & Biomedicine | Technology | Biochemical Research Methods | Computer Science | Mathematics | Biotechnology & Applied Microbiology | Science & Technology | Mathematical & Computational Biology | Algorithms | Humans | Software | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | Whole Exome Sequencing - methods | Index Medicus | Applications Notes
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10. Full Text HDR‐del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing
by Imai‐Okazaki, Atsuko and Kohda, Masakazu and Kobayashi, Kaori and Hirata, Tomoko and Sakata, Yasushi and Murayama, Kei and Ohtake, Akira and Okazaki, Yasushi and Nakaya, Akihiro and Ott, Jurg
Human mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1796 - 1800
exome sequencing | chromosomal deletion | Hamming distance | copy‐number variations | runs of homozygosity | mitochondrial disease | copy-number variations | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Mitochondrial Diseases - genetics | Homozygote | Exome - genetics | Datasets as Topic | Oligonucleotide Array Sequence Analysis | Humans | Statistics as Topic | Child | Whole Exome Sequencing - methods | Chromosomes, Human, Pair 17 - genetics | DNA Copy Number Variations | Medicine, Experimental | Medical research | Depth perception | Mitochondria | Chromosome deletion | DNA microarrays | Gene deletion | Index Medicus
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11. Full Text UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test
by Zhao, Zhangchen and Bi, Wenjian and Zhou, Wei and VandeHaar, Peter and Fritsche, Lars G and Lee, Seunggeun
American journal of human genetics, ISSN 0002-9297, 01/2020, Volume 106, Issue 1, pp. 3 - 12
PheWAS | rare variant test | GWAS | saddlepoint approximation | unbalanced case-control | whole exome sequence | UK-Biobank | efficient resampling | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome - genetics | Genome-Wide Association Study | Phenotype | Numerical Analysis, Computer-Assisted | Biological Specimen Banks | Computer Simulation | Humans | United Kingdom | Polymorphism, Single Nucleotide | Phenomics | Whole Exome Sequencing - methods | Case-Control Studies | Usage | Genetic variation | Genomics | Nucleotide sequencing | Identification and classification | Statistics | Methods | Gene banks | DNA sequencing | Index Medicus
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