-
1دورية أكاديمية
المؤلفون: Muyas, F, Bosio, M, Puig, A, Susak, H, Domènech, L, Escaramis, G, Zapata, L, Demidov, G, Estivill, X, Rabionet, R, Ossowski, S
المساهمون: Zapata Ortiz, Luis
مصطلحات موضوعية: allele balance, false positive variant calls, genetic variant detection, systematic NGS errors, Alleles, Bias, Databases, Genetic, Disease, Genetic Association Studies, Genome, Human, Genotype, Genotyping Techniques, Humans, Models, Polymorphism, Single Nucleotide
جغرافية الموضوع: United States
وصف الملف: Print-Electronic; 126; application/pdf
العلاقة: Human Mutation, 2019, 40 (1), pp. 115 - 126; https://repository.icr.ac.uk/handle/internal/5875Test
الإتاحة: https://doi.org/10.1002/humu.23674Test
https://repository.icr.ac.uk/handle/internal/5875Test -
2رسالة جامعية
المؤلفون: Turner, Isaac H. C.
المساهمون: McVean, Gilean A. T.
مصطلحات موضوعية: 572, genome assembly, computational biology, data structures, DNA sequencing, bioinformatics, genetic variant detection
-
3
المؤلفون: Mattia Bosio, Xavier Estivill, Hana Susak, Laura Domènech, Luis Zapata, Stephan Ossowski, Geòrgia Escaramís, German Demidov, Francesc Muyas, Raquel Rabionet, Anna Puig
المساهمون: Universitat de Barcelona
المصدر: Human Mutation
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instnameمصطلحات موضوعية: medicine.medical_specialty, Genotype, Genotyping Techniques, Computational biology, Biology, Genetic variant detection, Polymorphism, Single Nucleotide, Deep sequencing, Biologia computacional, systematic NGS errors, Systematic NGS errors, 03 medical and health sciences, Bias, Databases, Genetic, Rare events, medicine, Genetics, Methods, Humans, Disease, allele balance, Allele, genetic variant detection, Exome, Genotyping, Genetics (clinical), Exome sequencing, Alleles, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Models, Genetic, Genome, Human, 030305 genetics & heredity, 3. Good health, Medical genetics, false positive variant calls, False positive variant calls, Allele balance, Genètica
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1de2ae759cc8ff71fcace17c070378cTest
-
4
المؤلفون: Turner, I
المساهمون: Lunter, G, Melsted, P, McVean, G
مصطلحات موضوعية: data structures, computational biology, genome assembly, bioinformatics, DNA sequencing, genetic variant detection
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1064::79647cfa8097538f386de6df36b328caTest
https://ora.ox.ac.uk/objects/uuid:95c721f4-4bf5-48ef-8b16-0ca28e592bc5Test -
5
المؤلفون: Muyas F, Bosio M, Puig A, Susak H, Domènech L, Escaramis G, Zapata L, Demidov G, Estivill X, Raquel Rabionet Janssen, Ossowski S
المصدر: HUMAN MUTATION
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: false positive variant calls, systematic NGS errors, genetic variant detection, allele balance
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::06fe2adc77dadef9187a3c4f9ead38f0Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17419Test -
6دورية أكاديمية
المؤلفون: Muyas, Francesc, Bosio, Mattia, Puig, Anna, Sušak, Hana, 1985-, Domènech Salgado, Laura, 1989-, Escaramís, Geòrgia, Zapata Ortiz, Luis, 1985-, Demidov, German, 1990-, Estivill, Xavier, 1955-, Rabionet, Raquel, Ossowski, Stephan
مصطلحات موضوعية: Allele balance, False positive variant calls, Genetic variant detection, Systematic NGS errors
وصف الملف: application/pdf
العلاقة: Human Mutation. 2019;40(1):115-26; info:eu-repo/grantAgreement/EC/H2020/635290; Muyas F, Bosio M, Puig A, Susak H, Domènech L, Escaramis G et al. Allele balance bias identifies systematic genotyping errors and false disease associations. Hum Mutat. 2019;40(1):115-26. DOI:10.1002/humu.23674; http://hdl.handle.net/10230/36751Test; http://dx.doi.org/10.1002/humu.23674Test