Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Trine Vold"'
Autor:
Ashish Kumar Singh, Maren Fridtjofsen Olsen, Liss Anne Solberg Lavik, Trine Vold, Finn Drabløs, Wenche Sjursen
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
Abstract Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. However, CNV detectio
Externí odkaz:
https://doaj.org/article/84d201fa49674f48a6b546f71115b19b
Autor:
Wenche Sjursen, Trine Vold, Maren Fridtjofsen Olsen, Ashish Kumar Singh, Finn Drabløs, Liss Anne Solberg Lavik
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
BMC Medical Genomics
BMC Medical Genomics
Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. However, CNV detection based o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c675dcbd5e0efb30f996aae3be883d76
https://doi.org/10.1186/s12920-021-01059-x
https://doi.org/10.1186/s12920-021-01059-x
Autor:
M. Hansen, Liss Anne Solberg Lavik, Wenche Sjursen, Bodil Gilde, Trine Vold, Ragnhild Karlgård Toft, Ulrike Neckmann
Publikováno v:
Molecular Genetics & Genomic Medicine
The purpose of this study was to develop a massive parallel sequencing (MPS) workflow for diagnostic analysis of mismatch repair (MMR) genes using the GS Junior system (Roche). A pathogenic variant in one of four MMR genes, (MLH1, PMS2, MSH6, and MSH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da3bc93a807926c4d04ec791832d1878
https://pubmed.ncbi.nlm.nih.gov/24689082
https://pubmed.ncbi.nlm.nih.gov/24689082