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1. Full Text Statistical method to compare massive parallel sequencing pipelines
by Elsensohn, M.H and Leblay, N and Dimassi, S and Campan-Fournier, A and Labalme, A and Roucher-Boulez, F and Sanlaville, D and Lesca, G and Bardel, C and Roy, P
BMC Bioinformatics, ISSN 1471-2105, 03/2017, Volume 18, Issue 1, p. 139
Background: Today, sequencing is frequently carried out by Massive Parallel Sequencing (MPS) that cuts drastically sequencing time and expenses. Nevertheless,... 
Pipeline comparison | Sensitivity | Specificity | Statistical methods | Massive parallel sequencing | Next-generation sequencing | READ ALIGNMENT | PLATFORMS | BIOCHEMICAL RESEARCH METHODS | BIOINFORMATICS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MATHEMATICAL & COMPUTATIONAL BIOLOGY | FRAMEWORK | GENERATION | ION TORRENT | Computational Biology - methods | Humans | Epilepsy - genetics | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Models, Statistical | Epilepsy - pathology | Sequence Analysis, DNA | INDEL Mutation | Life Sciences
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2. Full Text Massive parallel sequencing of short tandem repeats in the Korean population
by Kim, Se‐Yong and Lee, Han‐Chul and Chung, Ukhee and Ham, Seon‐Kyu and Lee, Ho Yeon and Park, Su Jeong and Roh, Ye Jee and Lee, Seung Hwan
ELECTROPHORESIS, ISSN 0173-0835, 11/2018, Volume 39, Issue 21, pp. 2702 - 2707
STR analysis using capillary electrophoresis has been the most widely used method for forensic DNA typing. Recently, massive parallel sequencing (MPS)... 
Massive parallel sequencing (MPS) | MiSeqFGx | Forensic genetics | Korean population | STRs | CHEMISTRY, ANALYTICAL | DEVELOPMENTAL VALIDATION | BIOCHEMICAL RESEARCH METHODS | SIGNATURE PREP KIT | TORRENT PGM(TM) PLATFORM | NOMENCLATURE | AMPLIFICATION | GENETICS | DNA | AUTOSOMAL STR LOCI | MULTIPLEX | REFERENCE SAMPLES | Genetics | Analysis | DNA testing | Electrophoresis | DNA fingerprints | Deoxyribonucleic acid--DNA | Gene sequencing
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3. Full Text Chronological age prediction based on DNA methylation: Massive parallel sequencing and random forest regression
by Naue, Jana and Hoefsloot, Huub C.J and Mook, Olaf R.F and Rijlaarsdam-Hoekstra, Laura and van der Zwalm, Marloes C.H and Henneman, Peter and Kloosterman, Ate D and Verschure, Pernette J
Forensic Science International: Genetics, ISSN 1872-4973, 11/2017, Volume 31, pp. 19 - 28
The use of DNA methylation (DNAm) to obtain additional information in forensic investigations showed to be a promising and increasing field of interest.... 
DNA methylation | Massive parallel sequencing | Age prediction | Machine learning | ASSAY | SET | RNA | MEDICINE, LEGAL | MARKERS | IDENTIFICATION | GENOME | BODY-FLUID | GENETICS & HEREDITY | FORENSIC-SCIENCE | BLOOD | Humans | Middle Aged | Genetic Markers | Machine Learning | Sequence Analysis, DNA | Young Adult | DNA Methylation | Algorithms | Aging - genetics | Adolescent | Polymerase Chain Reaction | CpG Islands - genetics | Adult | Aged | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Epigenetic inheritance | Usage | Forensic genetics | Genetic research | Genetic aspects | Research | Methylation | Age | Genetic screening | Methods
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4. Full Text Mutational analysis of pulmonary tumours with neuroendocrine features using targeted massive parallel sequencing: A comparison of a neglected tumour group
by Vollbrecht, Claudia and Werner, Robert and Walter, Robert Fred Henry and Christoph, Daniel Christian and Heukamp, Lukas Carl and Peifer, Martin and Hirsch, Burkhard and Burbat, Lina and Mairinger, Thomas and Schmid, Kurt Werner and Wohlschlaeger, Jeremias and Mairinger, Fabian Dominik
British Journal of Cancer, ISSN 0007-0920, 12/2015, Volume 113, Issue 12, pp. 1704 - 1711
Background: Lung cancer is the leading cause of cancer-related deaths worldwide. The typical and atypical carcinoid (TC and AC), the large-cell neuroendocrine... 
lung cancer | targeted sequencing | massive parallel sequencing | SCLC | Carcinoids | NGS | SURVIVAL | NEOPLASMS | VARIANTS | CLASSIFICATION | MEDULLARY-THYROID CARCINOMA | POLYMORPHISM | carcinoids | P53 | CELL LUNG-CANCER | GENE | ONCOLOGY | RET MUTATION | Lung Neoplasms - genetics | Neuroendocrine Tumors - pathology | Humans | Middle Aged | Lung Neoplasms - pathology | Male | Neuroendocrine Tumors - genetics | Paraffin Embedding | Young Adult | Aged, 80 and over | Adult | Female | Aged | Mutation | Molecular Diagnostics
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5. Full Text Sudden unexpected death in the young — Value of massive parallel sequencing in postmortem genetic analyses
by Scheiper, Stefanie and Ramos-Luis, Eva and Blanco-Verea, Alejandro and Niess, Constanze and Beckmann, Britt-Maria and Schmidt, Ulrike and Kettner, Mattias and Geisen, Christof and Verhoff, Marcel A and Brion, Maria and Kauferstein, Silke
Forensic Science International, ISSN 0379-0738, 12/2018, Volume 293, pp. 70 - 76
Cases of sudden cardiac death (SCD) in young and apparently healthy individuals represent a devastating event in affected families. Hereditary arrhythmia... 
Genetics | Massive parallel sequencing | Sudden cardiac death | Arrhythmia syndromes | Sudden death | BRUGADA SYNDROME | VARIANTS | MEDICINE, LEGAL | UNEXPLAINED DEATH | EUROPEAN-SOCIETY | HYPERTROPHIC CARDIOMYOPATHY | RECOMMENDATIONS | MOLECULAR AUTOPSY | CARDIAC DEATH | EPIDEMIOLOGY | CHANNELOPATHIES | Cardiac Myosins - genetics | Humans | Connectin - genetics | Myosin Heavy Chains - genetics | Infant | Male | Death, Sudden, Cardiac - etiology | Sequence Analysis, DNA | Genetic Variation | Young Adult | Cardiomyopathies - genetics | Channelopathies - genetics | Calcium Channels, L-Type - genetics | Dystrophin - genetics | Hypertrophy, Left Ventricular - pathology | Ankyrins - genetics | Forensic Genetics | Adult | Female | High-Throughput Nucleotide Sequencing | alpha Catenin - genetics | Microfilament Proteins - genetics | Arrhythmia | Demographic aspects | Cardiac arrest | Causes of | Youth | Genetic aspects | Teenagers | Health aspects | Death of | Heart | Cardiac arrhythmia | Cardiomyopathy | Epilepsy | Genes | Cardiovascular disease | Family medical history | Genetic screening | Gene sequencing | Analgesics | Autopsy | Genetic analysis | Deoxyribonucleic acid--DNA | Genetic disorders | Forensic science | Legal medicine | Mortality | Preventive medicine | Disease prevention | Studies | Pathology | Sleep | Genetic counseling | Death
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6. Full Text Entire mitochondrial DNA sequencing on massively parallel sequencing for the Korean population
by Park, Sohyung and Cho, Sohee and Seo, Hee Jin and Lee, Ji Hyun and Kim, Moon-Young and Lee, Soong Deok
Journal of Korean Medical Science, ISSN 1011-8934, 2017, Volume 32, Issue 4, pp. 587 - 592
Mitochondrial DNA (mtDNA) genome analysis has been a potent tool in forensic practice as well as in the understanding of human phylogeny in the maternal... 
Korean | Mitochondrial DNA | Massive parallel sequencing | MtDNA haplogroup | Ion torrent PGM | Heteroplasmy | Massive Parallel Sequencing | mtDNA Haplogroup | HIGH-QUALITY | IDENTIFICATION | GENOME | PLATFORM | CONTROL REGION | MEDICINE, GENERAL & INTERNAL | Ion Torrent PGM | DISCRIMINATION | PGM(TM) | TREE | Genetic Variation | Haplotypes | DNA, Mitochondrial - metabolism | Humans | Asian Continental Ancestry Group - genetics | High-Throughput Nucleotide Sequencing | Open Reading Frames - genetics | Sequence Analysis, DNA | DNA, Mitochondrial - chemistry | Republic of Korea | Original | 의학일반
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7. Full Text Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
by Vega, Ana I and Medrano, Celia and Navarrete, Rosa and Desviat, Lourdes R and Merinero, Begoña and Rodríguez-Pombo, Pilar and Vitoria, Isidro and Ugarte, Magdalena and Pérez-Cerdá, Celia and Pérez, Belen
Genetics in Medicine, ISSN 1098-3600, 10/2016, Volume 18, Issue 10, pp. 1037 - 1043
Purpose: Glycogen storage disease (GSD) is an umbrella term for a group of genetic disorders that involve the abnormal metabolism of glycogen; to date, 23... 
glycogen storage disease | massive parallel sequencing | clinical exome sequencing | targeted exome sequencing | AGL GENE | GENETICS & HEREDITY | CONGENITAL DISORDERS | GENETIC-HETEROGENEITY | GLYCOSYLATION | MUTATIONS | IDENTIFICATION | NEXT-GENERATION | Thyroid Nuclear Factor 1 | Glycogen - genetics | Humans | Child, Preschool | Infant | Male | Chloride Channels - genetics | Young Adult | Glycogen - metabolism | Glycogen Storage Disease - physiopathology | Adult | Female | Anoctamins | Glycogen Storage Disease - diagnosis | Nuclear Proteins - genetics | Child | Transcription Factors - genetics | Exome - genetics | Sterol Esterase - genetics | Glycogen Storage Disease - genetics | Adolescent | High-Throughput Nucleotide Sequencing | Fructose-Bisphosphate Aldolase - genetics | Mutation | Pathology, Molecular
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8. Full Text Evaluation of a microhaplotypes panel for forensic genetics using massive parallel sequencing technology
by Turchi, Chiara and Melchionda, Filomena and Pesaresi, Mauro and Tagliabracci, Adriano
Forensic Science International: Genetics, ISSN 1872-4973, 07/2019, Volume 41, pp. 120 - 127
Massive parallel DNA sequencing (MPS) makes it possible to explore a new type of genetic marker, known as microhaplotypes or microhaps. These loci were... 
Massive parallel sequencing | Single nucleotide polymorphisms | Mixture deconvolution | Individual identification | Microhaplotypes | Matching probability | ANCESTRY INFERENCE | SET | MEDICINE, LEGAL | POWERFUL NEW-TYPE | MARKERS | LOCI | GENETICS & HEREDITY | SNPS
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9. Full Text Massive parallel sequencing of solid tumours – challenges and opportunities for pathologists
by Harris, Gavin and O'Toole, Sandra and George, Peter and Browett, Peter and Print, Cristin
Histopathology, ISSN 0309-0167, 01/2017, Volume 70, Issue 1, pp. 123 - 133
The role of pathologists is to provide diagnostic, prognostic and predictive data to enable clinical colleagues to manage patients optimally. Current... 
histopathology | massive parallel sequencing | genomics | next‐generation sequencing | bioinformatics | next-generation sequencing | INTRATUMOR HETEROGENEITY | PATHOLOGY | CANCER | ESOPHAGEAL ADENOCARCINOMA | SOMATIC MUTATIONS | CELL BIOLOGY | EVOLUTION | FORMALIN | DNA | MUTATIONAL LANDSCAPE | NEXT-GENERATION | Neoplasms - genetics | Humans | Pathologists | Pathology - methods | High-Throughput Nucleotide Sequencing - methods | High-Throughput Nucleotide Sequencing - trends | Pathology - trends | Genomics | Tumors | Morphology | Mutation
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10. Transcriptional analysis of endocrine disruption using zebrafish and massively parallel sequencing
by Baker, Michael E and Hardiman, Gary
Journal of Molecular Endocrinology, ISSN 0952-5041, 2014, Volume 52, Issue 3, pp. R241 - R256
Endocrine-disrupting chemicals (EDCs), including plasticizers, pesticides, detergents, and pharmaceuticals, affect a variety of hormone-regulated physiological... 
Endocrine disruptors | Zebrafish | Massive parallel sequencing | Steroid receptors | massive parallel sequencing | SINGLE POLYMERASE MOLECULES | endocrine disruptors | steroid receptors | NUCLEAR HORMONE-RECEPTORS | ESTROGEN-RECEPTOR | MINERALOCORTICOID RECEPTOR | HUMAN GENOME | ENDOCRINOLOGY & METABOLISM | BISPHENOL-A | zebrafish | EMBRYONIC ZEBRAFISH | DIFFERENTIAL EXPRESSION ANALYSIS | RNA-SEQ DATA | PACIFIC BIOSCIENCES | Maternal-Fetal Exchange | Transcriptome - genetics | Environmental Exposure | Sequence Analysis, DNA | Endocrine Disruptors - toxicity | Pregnancy | Reproduction - drug effects | Animals | Neoplasms - chemically induced | Base Sequence | Diabetes Mellitus - chemically induced | Female | Models, Animal | High-Throughput Nucleotide Sequencing
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11. Full Text HLA-G variability and haplotypes detected by massively parallel sequencing procedures in the geographicaly distinct population samples of Brazil and Cyprus
by Castelli, Erick C and Gerasimou, Petroula and Paz, Michelle A and Ramalho, Jaqueline and Porto, Iane O.P and Lima, Thálitta H.A and Souza, Andréia S and Veiga-Castelli, Luciana C and Collares, Cristhianna V.A and Donadi, Eduardo A and Mendes-Junior, Celso T and Costeas, Paul
Molecular Immunology, ISSN 0161-5890, 03/2017, Volume 83, pp. 115 - 126
The HLA-G molecule presents immunomodulatory properties that might inhibit immune responses when interacting with specific Natural Killer and T cell receptors,... 
Haplotypes | Massive parallel sequencing | Cyprus | Variability | Brazil | NGS | Polymorphisms | HLA-G | Next generation sequencing | 3' UNTRANSLATED REGION | G GENE POLYMORPHISMS | SYSTEMIC-LUPUS-ERYTHEMATOSUS | BIOCHEMISTRY & MOLECULAR BIOLOGY | G MOLECULES | IMMUNOLOGY | PEPTIDE PRESENTATION | G EXPRESSION | REGULATORY REGION | PROMOTER REGION | INHIBITORY RECEPTOR | BALANCING SELECTION | Humans | Computational Biology | Male | Genetic Variation | Haplotypes - genetics | Base Sequence | Polymerase Chain Reaction | Adult | Female | High-Throughput Nucleotide Sequencing | HLA-G Antigens - genetics | Medical colleges | Histocompatibility antigens | Multiprocessing | HLA histocompatibility antigens
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12. Full Text Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys‐Dietz syndromes
by Baetens, Machteld and Van Laer, Lut and De Leeneer, Kim and Hellemans, Jan and De Schrijver, Joachim and Van De Voorde, Hendrik and Renard, Marjolijn and Dietz, Hal and Lacro, Ronald V and Menten, Björn and Van Criekinge, Wim and De Backer, Julie and De Paepe, Anne and Loeys, Bart and Coucke, Paul J
Human Mutation, ISSN 1059-7794, 09/2011, Volume 32, Issue 9, pp. 1053 - 1062
The Marfan (MFS) and Loeys‐Dietz (LDS) syndromes are caused by mutations in the fibrillin‐1 ( FBN1 ) and Transforming Growth Factor Beta Receptor 1 and 2 (... 
multiplex PCR | massive parallel sequencing | Marfan | Loeys‐Dietz | TGFBR1 | FBN1 | TGFBR2 | Multiplex PCR | Massive parallel sequencing | Loeys-Dietz | RECEPTOR | INDIVIDUALS | DATABASE | GENETICS & HEREDITY | MUTATIONS | COMPLETE GENOME | Molecular Diagnostic Techniques - methods | Reproducibility of Results | Humans | Loeys-Dietz Syndrome - diagnosis | Mutation - genetics | Marfan Syndrome - genetics | Polymorphism, Genetic | Pilot Projects | DNA Mutational Analysis | Base Sequence | Marfan Syndrome - diagnosis | Polymerase Chain Reaction | DNA Primers - metabolism | Loeys-Dietz Syndrome - genetics | High-Throughput Nucleotide Sequencing - methods | Polymerase chain reaction | Missense mutation | DNA probes | Exons | Data processing | genomics | Transforming growth factor- beta | Fibrillin
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13. Full Text Forensic characterization of Brazilian regional populations through massive parallel sequencing of 124 SNPs included in HID ion Ampliseq Identity Panel
by Avila, Eduardo and Felkl, Aline Brugnera and Graebin, Pietra and Nunes, Cláudia Paiva and Alho, Clarice Sampaio
Forensic Science International: Genetics, ISSN 1872-4973, 05/2019, Volume 40, pp. 74 - 84
Use of Massive Parallel Sequencing (MPS) techniques has been investigated by forensic community aiming introduction of such methods in routine forensic... 
Brazilian population | Y-haplotypes | HID Ion Ampliseq Identity Panel | SNP | Forensics | Massive Parallel Sequencing | ASSAY | SET | MEDICINE, LEGAL | MARKERS | IDENTIFICATION | ANCESTRY | INDIVIDUALS | GENETICS | GENETICS & HEREDITY | SINGLE-NUCLEOTIDE POLYMORPHISMS | Forensic genetics | Genetic aspects | Brazilians | Single nucleotide polymorphisms | Human population genetics | Identification and classification | Methods
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