-
1
المؤلفون: Chip Stewart, Pratiti Bandopadhayay, Joachim Weischenfeldt, Yang Li, Chad Nusbaum, Ryan O’Rourke, Ted Sharpe, Peter J. Campbell, Jeremiah Wala, Matthew Meyerson, Rameen Beroukhim, Noah F. Greenwald, Marcin Imielinski, Xiaotong Yao, Gad Getz, Steven E. Schumacher, Cheng-Zhong Zhang
المصدر: Wala, J A, Bandopadhayay, P, Greenwald, N F, O'Rourke, R, Sharpe, T, Stewart, C, Schumacher, S, Li, Y, Weischenfeldt, J, Yao, X, Nusbaum, C, Campbell, P, Getz, G, Meyerson, M, Zhang, C-Z, Imielinski, M & Beroukhim, R 2018, ' SvABA : genome-wide detection of structural variants and indels by local assembly ', Genome Research, vol. 28, no. 4, pp. 581-591 . https://doi.org/10.1101/gr.221028.117Test
مصطلحات موضوعية: 0301 basic medicine, Sequence analysis, Virus Integration, Method, Sequence assembly, Genomics, Computational biology, Biology, Genome, 03 medical and health sciences, INDEL Mutation, Sequence Deletion/genetics, Databases, Genetic, Genetics, Humans, Virus Integration/genetics, Indel, Genetics (clinical), Sequence Deletion, INDEL Mutation/genetics, Contig, Genome, Human, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Genomic Structural Variation/genetics, Human genetics, 030104 developmental biology, Genomic Structural Variation, Genome, Human/genetics, Human genome, Software
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94cedf7aa5c2d890ddcd7b7c209f4632Test
https://doi.org/10.1101/gr.221028.117Test -
2
المصدر: G3, vol. 7, no. 8, pp. 2413-2426
G3: Genes, Genomes, Genetics, Vol 7, Iss 8, Pp 2413-2426 (2017)مصطلحات موضوعية: 0301 basic medicine, Genomics, Retrotransposon, QH426-470, medicine.disease_cause, Genome, Candida glabrata/genetics, Candida glabrata/isolation & purification, Chromosomes, Fungal/genetics, Fungal Proteins/genetics, Genetic Variation, Genome, Fungal/genetics, Humans, INDEL Mutation/genetics, Molecular Sequence Annotation, Nucleotides/genetics, Polymorphism, Single Nucleotide/genetics, Genome Report, adhesins, drug resistance, fungal pathogens, genome comparisons, 03 medical and health sciences, medicine, Genetics, Molecular Biology, Gene, Genetics (clinical), Comparative genomics, Mutation, Fungal protein, Candida glabrata, biology, biology.organism_classification, 030104 developmental biology, Host adaptation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::698ebfa2f035fb1d52c4a933da7ebcdcTest
https://serval.unil.ch/resource/serval:BIB_CDBF97BBE25A.P001/REF.pdfTest -
3
المؤلفون: Amandine Moriot, Diana Hall
المصدر: Genetics in medicine, vol. 21, no. 3, pp. 613-621
مصطلحات موضوعية: Forensic Genetics, Genetic Markers, 0301 basic medicine, Genotype, Population, 030105 genetics & heredity, Biology, Fathers, 03 medical and health sciences, chemistry.chemical_compound, Fetus, Gene Frequency, INDEL Mutation, Pregnancy, Prenatal Diagnosis, Humans, Alleles, Biomarkers/blood, Cell-Free Nucleic Acids/analysis, Cell-Free Nucleic Acids/genetics, DNA/blood, Female, Forensic Genetics/methods, Gene Frequency/genetics, Genetic Markers/genetics, INDEL Mutation/genetics, Microsatellite Repeats/genetics, Paternal Inheritance/genetics, Polymorphism, Genetic/genetics, Prenatal Diagnosis/methods, Sequence Analysis, DNA/methods, Cell-free DNA, DIP-STR, DNA mixture, Noninvasive prenatal testing, Paternity testing, Allele, education, Genetics (clinical), Genetics, education.field_of_study, Polymorphism, Genetic, DNA, Sequence Analysis, DNA, 030104 developmental biology, chemistry, Cell-free fetal DNA, Genetic marker, Paternal Inheritance, Microsatellite, Cell-Free Nucleic Acids, Biomarkers, Microsatellite Repeats
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::881d9d5cf98ce01f846a1bf22d129e30Test
https://doi.org/10.1038/s41436-018-0102-9Test -
4
المؤلفون: Sergey Nikolaev, Armand Bottani, Stylianos E. Antonarakis, Daniel Robyr, Federico Santoni, Michel Guipponi, Periklis Makrythanasis
المصدر: Genome Res, vol. 24, no. 2, pp. 349-55
Genome Research
Genome Research, Vol. 24, No 2 (2014) pp. 349-55مصطلحات موضوعية: medicine.medical_specialty, Genotype, Population, Single-nucleotide polymorphism, Biology, Compound heterozygosity, Polymorphism, Single Nucleotide, Algorithms, Computational Biology/methods, Databases, Genetic, Gene Frequency, Genetic Predisposition to Disease, Humans, INDEL Mutation/*genetics, Phenotype, Polymorphism, Single Nucleotide/*genetics, Sequence Analysis, DNA, Software, symbols.namesake, INDEL Mutation, Genetics, medicine, ddc:576.5, Allele, Indel, education, Genetics (clinical), education.field_of_study, Computational Biology, 3. Good health, Mendelian inheritance, symbols, Medical genetics
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::421fa6bcb7ac36d4d0736e816be65fb6Test
https://serval.unil.ch/notice/serval:BIB_F69325586088Test -
5
المؤلفون: Ceylan Ayada, Ümran Toru, Sebahat Turgut, Osman Genç, Günfer Turgut, Server Sahin, A. Yerlikaya
مصطلحات موضوعية: Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Humans, INDEL Mutation/*genetics, Peptidyl-Dipeptidase A/*genetics, Pulmonary Disease, Chronic Obstructive/*genetics/pathology, Renin-Angiotensin System/*genetics, Risk Factors, Turkey, genomic DNA, genetic association, genotype, polymerase chain reaction, genetic risk, Gastroenterology, Turkey (republic), Turkish population, Renin-Angiotensin System, Pulmonary Disease, Chronic Obstructive, INDEL Mutation, renin angiotensin aldosterone system, Genotype, genetic variability, genetic polymorphism, genetics, pathophysiology, COPD, education.field_of_study, clinical article, biology, Chronic obstructive pulmonary disease, allele, General Medicine, risk factor, Renin angiotensin system, blood sampling, Angiotensin converting enzyme, medicine.medical_specialty, Population, dipeptidyl carboxypeptidase, DNA determination, Peptidyl-Dipeptidase A, Article, Internal medicine, geographic distribution, medicine, Genetic predisposition, ACE protein, human, heterozygosity, controlled study, human, education, Molecular Biology, Allele frequency, gene identification, business.industry, population genetics, Angiotensin-converting enzyme, ACE gene, medicine.disease, DNA isolation, Endocrinology, gene function, biology.protein, gene expression, Turk (people), pathology, homozygosity, business, genetic predisposition, chronic obstructive lung disease, Blood sampling
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f6d6032137ce50699698c4d9415dcd5Test
https://hdl.handle.net/20.500.12438/4548Test -
6
المؤلفون: Gang Xu, Dong Li, Tong Liu, Michael Shehata, Panagiotis Korantzopoulos, Xunzhang Wang, Guangping Li
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Peptidyl-Dipeptidase A, Bioinformatics, Peptidyl-Dipeptidase A/*genetics, Renin-Angiotensin System, INDEL Mutation, Risk Factors, Physiology (medical), Internal medicine, Atrial Fibrillation, Medicine, Insertion deletion, Humans, Polymorphism, Genetic/genetics, Aged, Polymorphism, Genetic, biology, business.industry, Case-control study, Angiotensin-converting enzyme, Atrial fibrillation, Atrial Fibrillation/epidemiology/*genetics/physiopathology, Middle Aged, medicine.disease, Clinical trial, INDEL Mutation/*genetics, Endocrinology, Meta-analysis, Case-Control Studies, biology.protein, Dominant model, Female, Gene polymorphism, Renin-Angiotensin System/physiology, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cb34bb3b79e1ba9ba3bf6720e1ebaffTest
http://olympias.lib.uoi.gr/jspui/handle/123456789/23675Test -
7
المؤلفون: Raziye Akcılar, Ceylan Ayada, Sebahat Turgut, Fulya Akin, Günfer Turgut
مصطلحات موضوعية: Male, systolic blood pressure, genetic association, genotype, Angiotensinogen, cholesterol blood level, Blood Pressure, insulin blood level, low density lipoprotein cholesterol, chemistry.chemical_compound, Gene Frequency, INDEL Mutation, high density lipoprotein cholesterol, insulin resistance, Genotype, genetic polymorphism, Receptor, clinical article, biology, adult, article, General Medicine, Middle Aged, growth hormone blood level, female, Female, triacylglycerol, Acromegaly/enzymology/*genetics/physiopathology, Adult, Angiotensinogen/*genetics, Blood Pressure/genetics, Case-Control Studies, Gene Frequency/genetics, Genetic Predisposition to Disease, Humans, INDEL Mutation/*genetics, Peptidyl-Dipeptidase A/*genetics, Polymorphism, Single Nucleotide/*genetics, Receptor, Angiotensin, Type 1/*genetics, Angiotensin converting enzyme, medicine.medical_specialty, insulin, hypertension, angiotensin 1 receptor, dipeptidyl carboxypeptidase, AT1-receptor, Peptidyl-Dipeptidase A, gene frequency, Polymorphism, Single Nucleotide, Receptor, Angiotensin, Type 1, protein denaturation, male, Internal medicine, Acromegaly, Genetics, medicine, controlled study, human, Polymorphism, Molecular Biology, Angiotensin II receptor type 1, Triglyceride, diastolic blood pressure, Angiotensin-converting enzyme, medicine.disease, triacylglycerol blood level, Angiotensin II, somatomedin C, body mass, Endocrinology, Blood pressure, glucose blood level, chemistry, biology.protein, homozygosity
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e76bb23295505227da5da7e4e11c32Test
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/6129Test