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1. 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
Genome-wide (exome or whole genome) sequencing with appropriate genetic counseling should be considered for any patient with a suspected Mendelian disease that... 
Genetic counseling | Genetic testing | Whole genome sequencing | Mendelian disease | Exome sequencing | Incidental findings | EXOME | VARIANTS | GUIDELINES | CHALLENGES | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | DISEASES | RECOMMENDATIONS | GENETICS | COLLEGE | HEALTH CARE SCIENCES & SERVICES | UTILITY | 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
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2. 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
The importance of neoantigens for cancer immunity is now well‐acknowledged. However, there are diverse strategies for predicting and prioritizing candidate... 
neoantigen | whole‐exome sequencing | RNA‐Seq | Lung cancer | next‐generation sequencing | next-generation sequencing | RNA-Seq | whole-exome sequencing | NETMHCPAN | TUMOR | ANTIGENS | CANCER | SOMATIC MUTATIONS | DISCOVERY | ONCOLOGY | FRAMEWORK | BINDING | T-CELLS | REVEALS | 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 | Original
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3. Full Text The Third Revolution in Sequencing Technology
by van Dijk, Erwin L and Jaszczyszyn, Yan and Naquin, Delphine and Thermes, Claude
Trends in Genetics, ISSN 0168-9525, 09/2018, Volume 34, Issue 9, pp. 666 - 681
Forty years ago the advent of Sanger sequencing was revolutionary as it allowed complete genome sequences to be deciphered for the first time. A second... 
single-molecule real-time sequencing | nanopore sequencing | third-generation sequencing | next-generation sequencing | long-read sequencing | synthetic long-read sequencing | HUMAN GENOME | DNA METHYLATION | TRANSCRIPTOME | SINGLE-MOLECULE | N-6-ADENINE | DISEASE | GENETICS & HEREDITY | SURVEILLANCE | STRUCTURAL VARIATION | REAL-TIME | NANOPORE | DNA - genetics | DNA - analysis | Humans | Genome - genetics | High-Throughput Nucleotide Sequencing - methods | High-Throughput Nucleotide Sequencing - trends | Sequence Analysis, DNA - methods | Whole Exome Sequencing - methods | Whole Exome Sequencing - trends
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4. Full Text Deep sequencing of 10,000 human genomes
by Amalio Telenti and Levi C. T. Pierce and William H. Biggs and Julia di Iulio and Emily H. M. Wong and Martin M. Fabani and Ewen F. Kirkness and Ahmed Moustafa and Naisha Shah and Chao Xie and Suzanne C. Brewerton and Nadeem Bulsara and Chad Garner and Gary Metzker and Efren Sandoval and Brad A. Perkins and Franz J. Och and Yaron Turpaz and J. Craig Venter
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2016, Volume 113, Issue 42, pp. 11901 - 11906
We report on the sequencing of 10,545 human genomes at 30×–40× coverage with an emphasis on quality metrics and novel variant and sequence discovery. We find... 
Human genetic diversity | Genomics | Noncoding genome | POPULATION | human genetic diversity | X-CHROMOSOME | MULTIDISCIPLINARY SCIENCES | GUIDELINES | PATTERNS | noncoding genome | RARE VARIANTS | GENETICS | DISEASE | genomics | WHOLE-EXOME | SCALE | ASSOCIATION | Computational Biology - methods | Genetic Predisposition to Disease | Reproducibility of Results | Humans | Open Reading Frames | Untranslated Regions | Chromosome Mapping | Whole Genome Sequencing | Genetic Variation | Polymorphism, Single Nucleotide | Genome, Human | Genomics - methods | Databases, Nucleic Acid | Genetic research | Research | Nucleotide sequencing | Human genome | DNA sequencing | Biological Sciences
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5. 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
Following the "finished," euchromatic, haploid human reference genome sequence, the rapid development of novel, faster, and cheaper sequencing technologies is... 
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 | MEDICINE, RESEARCH & EXPERIMENTAL | COPY NUMBER POLYMORPHISM | MENTAL-RETARDATION | PARKINSON DISEASE | MITOCHONDRIAL CARDIOMYOPATHY | HUMAN GENE-EXPRESSION | HEARING-LOSS | WHOLE EXOME CAPTURE | HAJDU-CHENEY-SYNDROME | DE-NOVO MUTATIONS | 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
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6. Full Text 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, pp. e173438 - e173438
IMPORTANCE: While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution of single-gene... 
STATEMENT | MORTALITY | DIAGNOSIS | RECOMMENDATIONS | PEDIATRICS | WHOLE | CLINICAL EXOME | 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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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
Next-generation sequencing (NGS) is the most powerful diagnostic tool since the roentgenogram. NGS will facilitate diagnosis on a massive scale, allowing... 
phenotype | dysmorphology | Mendelian | whole‐genome sequencing | NGS | whole‐exome sequencing | monogenic | Wholegenome sequencing | Phenotype | Dysmorphology | Whole-exome sequencing | Monogenic | whole-genome sequencing | GENETICS & HEREDITY | whole-exome sequencing | Genome-Wide Association Study | Molecular Diagnostic Techniques | Genetics, Medical | Humans | Translational Medical Research | High-Throughput Nucleotide Sequencing | whole genome sequencing | whole exome sequencing
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8. Full Text Whole-exome sequencing links caspase recruitment domain 11 ( CARD11 ) inactivation to severe combined immunodeficiency
by Greil, Johann, MD and Rausch, Tobias, PhD and Giese, Thomas, MD and Bandapalli, Obul R., PhD and Daniel, Volker, MD and Bekeredjian-Ding, Isabelle, MD and Stütz, Adrian M., PhD and Drees, Christoph, MD and Roth, Susanne, MD and Ruland, Jürgen, MD and Korbel, Jan O., PhD and Kulozik, Andreas E., MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 5, pp. 1376 - 1383.e3
Background Primary immunodeficiencies represent model diseases for the mechanistic understanding of the human innate and adaptive immune response. They are... 
Allergy and Immunology | caspase recruitment domain 11 (CARD11) | B cell | infection | nuclear factor κB | Whole-exome sequencing | systematic variant categorization | T cell | severe combined immunodeficiency | Amino Acid Sequence | Cell Line | Jurkat Cells | Humans | CARD Signaling Adaptor Proteins - deficiency | Molecular Sequence Data | Infant | Guanylate Cyclase - antagonists & inhibitors | Severe Combined Immunodeficiency - immunology | Codon, Nonsense | CARD Signaling Adaptor Proteins - genetics | CARD Signaling Adaptor Proteins - antagonists & inhibitors | Homozygote | Severe Combined Immunodeficiency - complications | Severe Combined Immunodeficiency - genetics | Guanylate Cyclase - deficiency | Pedigree | Female | Guanylate Cyclase - genetics | Severe combined immunodeficiency | Analysis | Genomics | Flow cytometry | Laboratories | Colleges & universities | T cell receptors | Genomes | Kinases | Gene expression | Patients | Proteins | Ethics | Signal transduction | Lymphocytes | Mutation | Age | Deoxyribonucleic acid--DNA
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9. 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, The, ISSN 0091-6749, 2016, Volume 138, Issue 4, pp. 957 - 969
The advent of next-generation sequencing (NGS) in 2010 has transformed medicine, particularly the growing field of inborn errors of immunity. NGS has... 
Allergy and Immunology | targeted sequencing | primary immunodeficiency | Next-generation sequencing | whole-exome sequencing | whole-genome sequencing | DIAGNOSIS | VARIANTS | CLASSIFICATION | IMMUNOLOGY | DEFICIENCY | HYPOMORPHIC MUTATION | COMBINED IMMUNODEFICIENCY | GAIN-OF-FUNCTION | ALLERGY | DISEASE | INNATE IMMUNITY | TOOL | 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 | Targeted sequencing | Whole exome sequencing | Whole genome sequencing | Next generation sequencing | Primary immunodeficiency
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10. Full Text Evaluation of whole exome sequencing by targeted gene sequencing and Sanger sequencing
by Chang, Ya-Sian and Chang, Jan-Gowth and Huang, Hsien-Da and Yeh, Kun-Tu
Clinica Chimica Acta, ISSN 0009-8981, 08/2017, Volume 471, pp. 222 - 232
Targeted gene sequencing (TGS) and whole exome sequencing (WES) are being used in clinical testing in laboratories. We compared the performances of TGS and WES... 
Whole exome sequencing | Targeted gene sequencing | Next-generation sequencing | PERFORMANCE | FRAMEWORK | GENERATION | MUTATIONS | MEDICAL LABORATORY TECHNOLOGY | SOMATIC VARIANTS | PCR | Endometrial Neoplasms - genetics | Humans | Sensitivity and Specificity | Polymerase Chain Reaction | Female | DNA, Neoplasm - genetics | Mutation | Gene Expression Regulation, Neoplastic - genetics | Whole Exome Sequencing | Genetic research | Nucleotide sequencing | Genes | Analysis | DNA sequencing
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11. 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
This retrospective study aims to investigate the diagnostic yields of multiple strategies of next‐generation sequencing (NGS) for children with rare... 
copy number variation sequencing | targeted next‐generation sequencing panels | whole‐exome sequencing | diagnostic yield | neurological disorders | targeted next-generation sequencing panels | whole-exome sequencing | MENDELIAN-INHERITANCE | READ ALIGNMENT | SERVER | GENETICS & HEREDITY | GENERATION | Nervous system diseases | Diagnosis | Seizures (Medicine) | Children | Health aspects | Neurological diseases | Pediatrics | Copy number | Sodium channels (voltage-gated) | Patients | Neurological disorders | Seizures
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