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1. Full Text Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples
by Zakrzewski, Falk and Gieldon, Laura and Rump, Andreas and Seifert, Michael and Gruetzmann, Konrad and Krueger, Alexander and Loos, Sina and Zeugner, Silke and Hackmann, Karl and Porrmann, Joseph and Wagner, Johannes and Kast, Karin and Wimberger, Pauline and Baretton, Gustavo and Schroeck, Evelin and Aust, Daniela and Klink, Barbara
BMC cancer, ISSN 1471-2407, 04/2019, Volume 19, Issue 1, pp. 396 - 396
Life Sciences & Biomedicine | Oncology | Science & Technology | Multiplex Polymerase Chain Reaction - methods | Reproducibility of Results | Formaldehyde - chemistry | Ovarian Neoplasms - diagnosis | Humans | Ovarian Neoplasms - blood | Male | DNA Copy Number Variations - genetics | INDEL Mutation | Ovarian Neoplasms - genetics | Paraffin Embedding | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Pedigree | Breast Neoplasms - blood | Germ-Line Mutation | Female | Breast Neoplasms - diagnosis | Tissue Fixation | High-Throughput Nucleotide Sequencing - methods | BRCA2 Protein - genetics | Polymerase chain reaction | Usage | Gene mutations | Patient outcomes | Breast cancer | Genetic aspects | Research | Nucleotide sequencing | Risk factors | Formaldehyde | DNA sequencing | Ovarian cancer | Pathogenic germline mutations | Genetic testing | NGS | BRCA1 | BRCA2 | HBOC
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2. Full Text Targeted NGS for species level phylogenomics: "made to measure" or "one size fits all"?
by Kadlec, Malvina and Bellstedt, Dirk U and Le Maitre, Nicholas C and Pirie, Michael D
PeerJ (San Francisco, CA), ISSN 2167-8359, 2017, Volume 2017, Issue 7, pp. e3569 - e3569
Next-generation sequencing | Hybridization enrichment | Marker development | Transcriptome | Ericaceae | Phylogeny | Target enrichment | Targeted sequence capture | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Polymerase chain reaction | Analysis | Genetic aspects | Nucleotide sequencing | Methods | Angiosperms | DNA sequencing | Laboratories | Genes | Genomes | Hybridization | Gene expression | Design | Phylogenetics | Evolution | Flowering | Bioinformatics | Deoxyribonucleic acid--DNA
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3. Full Text panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics
by Povysil, Gundula and Tzika, Antigoni and Vogt, Julia and Haunschmid, Verena and Messiaen, Ludwine and Zschocke, Johannes and Klambauer, Günter and Hochreiter, Sepp and Wimmer, Katharina
Human mutation, ISSN 1059-7794, 07/2017, Volume 38, Issue 7, pp. 889 - 897
copy‐number variation | clinical diagnostics | targeted next‐generation sequencing | deletion | panel sequencing | duplication | targeted next-generation sequencing | copy-number variation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | User-Computer Interface | Reproducibility of Results | Gene Library | Humans | Computational Biology | Databases, Genetic | Sequence Analysis, DNA | DNA Copy Number Variations | Computer Graphics | Algorithms | Sensitivity and Specificity | High-Throughput Nucleotide Sequencing | Software | Quality Control | Diagnostic equipment (Medical) | Nucleotide sequencing | DNA sequencing | Computer applications | Quality control | Index Medicus | Methods
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4. Full Text CoNVaDING: Single Exon Variation Detection in Targeted NGS Data
by Johansson, Lennart F and van Dijk, Freerk and de Boer, Eddy N and van Dijk-Bos, Krista K and Jongbloed, Jan D H and Hout , van der, A and Westers, Helga and Sinke, Richard J and Swertz, Morris A and Sijmons, Rolf H and Sikkema-Raddatz, Birgit
Human mutation, ISSN 1059-7794, 05/2016, Volume 37, Issue 5, pp. 457 - 464
POPULATION | exon deletion | clinical diagnostics | VARIANTS | CNV | duplication | COPY-NUMBER VARIATION | AMPLIFICATION | targeted next-generation sequencing | NGS | SEQUENCING DATA | PCR | TOOLS | targeted next‐generation sequencing | exon deletion/duplication | Exon deletion/duplication | Targeted next-generation sequencing | Clinical diagnostics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease - genetics | Reproducibility of Results | Exons | Humans | Sensitivity and Specificity | Databases, Genetic | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | DNA Copy Number Variations | Software - standards | Genetic disorders | Mutation | Index Medicus
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5. Full Text NGS‐based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism
by Okamura, Ken and Hayashi, Masahiro and Abe, Yuko and Kono, Michihiro and Nakajima, Kimiko and Aoyama, Yumi and Nishigori, Chikako and Ishimoto, Hiroshi and Ishimatsu, Yuji and Nakajima, Mika and Hozumi, Yutaka and Suzuki, Tamio
Pigment cell and melanoma research, ISSN 1755-1471, 11/2019, Volume 32, Issue 6, pp. 848 - 853
targeted resequencing | BLOC‐3 | albinism | next‐generation sequencing | BLOC‐2 | BLOC-2 | next-generation sequencing | BLOC-3 | Oncology | Life Sciences & Biomedicine | Dermatology | Science & Technology | Cell Biology | Skin | Mutation | Diagnosis | Albinism | Genes | Melanin | Index Medicus
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6. Full Text Comprehensive kinome NGS targeted expression profiling by KING-REX
by Carapezza, Giovanni and Cusi, Carlo and Rizzo, Ettore and Raddrizzani, Laura and Di Bella, Sebastiano and Somaschini, Alessio and Leone, Antonella and Lupi, Rosita and Mutarelli, Margherita and Nigro, Vincenzo and Di Bernardo, Diego and Magni, Paolo and Isacchi, Antonella and Bosotti, Roberta
BMC genomics, ISSN 1471-2164, 04/2019, Volume 20, Issue 1, pp. 307 - 307
Kinome gene expression | NGS RNA targeted panel | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | RNA sequencing | Genetic research | Genetic aspects | Research | Gene expression | Protein kinases | Crizotinib | Enzymes | RNA | Genes | Information management | Drug approval | Cell culture | Data analysis | Profiling | Target recognition | Transcription | Research & development--R&D | Lung cancer | Genomics | Genomes | Ribonucleic acid--RNA | Kinases | Lymphoma | Gene sequencing | Design | Proteins | Next-generation sequencing | Databases | Mutation | Bioinformatics
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7. Full Text Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
by Pospiech, Ewelina and Kukla-Bartoszek, Magdalena and Karlowska-Pik, Joanna and Zielinski, Piotr and Wozniak, Anna and Boron, Michal and Dabrowski, Michal and Zubanska, Magdalena and Jarosz, Agata and Grzybowski, Tomasz and Ploski, Rafal and Spolnicka, Magdalena and Branicki, Wojciech
BMC genomics, ISSN 1471-2164, 08/2020, Volume 21, Issue 1, pp. 1 - 538
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Gray hair | Aging | Genetic aspects | Oxidative stress | Sex | Genomes | Single-nucleotide polymorphism | Cosmetics industry | Prediction models | Sex determination | Quality | Genetic analysis | Cosmetics | Genetics | Chronology | Age | Deoxyribonucleic acid--DNA | Hair | Data analysis | Genetic control | Redundancy | Age determination | Environmental factors | Regression analysis | Fibroblast growth factor 5 | Studies | Genetic variance | Biomarkers | Hair loss | Index Medicus | FGF5 | Head hair greying | KIF1A | Targeted next-generation sequencing | Prediction modelling | Whole-exome sequencing
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8. Full Text Considerations of developing an NGS assay for clinical applications in precision oncology: The NCI-MATCH NGS assay experience
by Lih, Chih-Jian, PhD and Takebe, Naoko, MD PhD
Current problems in cancer, ISSN 0147-0272, 2017, Volume 41, Issue 3, pp. 201 - 211
Hematology, Oncology and Palliative Medicine | NGS assay development and validation | Actionable mutations | NCI-MATCH trial | Life Sciences & Biomedicine | Oncology | Science & Technology | DNA Mutational Analysis - standards | Humans | DNA Mutational Analysis - methods | False Positive Reactions | Genetic Testing - methods | Patient Selection | Clinical Laboratory Services - legislation & jurisprudence | Neoplasms - genetics | Sensitivity and Specificity | Gene Expression Profiling - standards | Genomics - methods | Molecular Targeted Therapy - methods | Genomics - legislation & jurisprudence | Quality Control | Medical Oncology - methods | Genetic Testing - standards | Genetic Testing - legislation & jurisprudence | Computational Biology | Genomics - standards | Gene Expression Profiling - methods | Clinical Trials as Topic | Neoplasms - drug therapy | Biopsy | High-Throughput Nucleotide Sequencing | Clinical Laboratory Services - standards | Mutation | Molecular Targeted Therapy - standards | Precision Medicine - methods | Gene mutations | Lymphomas | Index Medicus
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9. Full Text Cancer modelling in the NGS era – Part I: Emerging technology and initial modelling
by Rovigatti, Ugo
Critical reviews in oncology/hematology, ISSN 1040-8428, 2015, Volume 96, Issue 2, pp. 274 - 307
Hematology, Oncology and Palliative Medicine | Next generation sequencing (NGS) | Crizotinib | Cancer modelling history | Targeted gene therapy (TGT) | Imatinib | Melanoma | ALK + NSCLC | Ion torrent | Vemurafenib | IDH mutations | Gene networks | Erlotinib | Cytoxic chemotherapy | Intra-tumour heterogeneity | Chronic myelogenous leukaemia (CML) | Tumour clonality | Nanopore | Gefitinib | Inter-tumour heterogeneity | Non small cell lung carcinoma (NSCLC) | ALK+NSCLC | Oncology | Life Sciences & Biomedicine | Hematology | Science & Technology | History, 21st Century | Neoplasms - history | High-Throughput Screening Assays - history | History, 20th Century | Humans | High-Throughput Screening Assays - methods | Analysis | Models | Cancer | Index Medicus
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