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

المؤلفون: Knaus, Brian, Grünwald, Niklaus

مصطلحات موضوعية: Copy number variation, ploidy, allele balance, vcfR, high throughput sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::318b96b89cb29130e1cae1e58ee7a89dTest

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
instname

مصطلحات 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

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
instname

مصطلحات 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

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

الإتاحة: https://doi.org/10.1002/humu.23674Test
http://hdl.handle.net/10230/36751Test