LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data
Compared to single nucleotide variants and short indels, structural variants (SVs) are often more challenging to detect using high-throughput sequencing based methods. Here, the authors develop LinkedSV, a computational tool for SV detection using linked-read exome and genome sequencing data.
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2019-12-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-019-13397-7 |
| _version_ | 1830299724447481856 |
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| author | Li Fang Charlly Kao Michael V. Gonzalez Fernanda A. Mafra Renata Pellegrino da Silva Mingyao Li Sören-Sebastian Wenzel Katharina Wimmer Hakon Hakonarson Kai Wang |
| author_facet | Li Fang Charlly Kao Michael V. Gonzalez Fernanda A. Mafra Renata Pellegrino da Silva Mingyao Li Sören-Sebastian Wenzel Katharina Wimmer Hakon Hakonarson Kai Wang |
| author_sort | Li Fang |
| collection | DOAJ |
| description | Compared to single nucleotide variants and short indels, structural variants (SVs) are often more challenging to detect using high-throughput sequencing based methods. Here, the authors develop LinkedSV, a computational tool for SV detection using linked-read exome and genome sequencing data. |
| first_indexed | 2024-12-19T08:14:14Z |
| format | Article |
| id | doaj.art-76f9da9e0bae457b92757a7d2b1f0be4 |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-19T08:14:14Z |
| publishDate | 2019-12-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-76f9da9e0bae457b92757a7d2b1f0be42022-12-21T20:29:32ZengNature PortfolioNature Communications2041-17232019-12-0110111510.1038/s41467-019-13397-7LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing dataLi Fang0Charlly Kao1Michael V. Gonzalez2Fernanda A. Mafra3Renata Pellegrino da Silva4Mingyao Li5Sören-Sebastian Wenzel6Katharina Wimmer7Hakon Hakonarson8Kai Wang9Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of PhiladelphiaCenter for Applied Genomics, Children’s Hospital of PhiladelphiaCenter for Applied Genomics, Children’s Hospital of PhiladelphiaCenter for Applied Genomics, Children’s Hospital of PhiladelphiaCenter for Applied Genomics, Children’s Hospital of PhiladelphiaDepartment of Biostatistics, Epidemiology and Informatics, University of PennsylvaniaInstitute of Human Genetics, Department for Genetics and Pharmacology, Medical University of InnsbruckInstitute of Human Genetics, Department for Genetics and Pharmacology, Medical University of InnsbruckDepartment of Pediatrics, University of PennsylvaniaRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of PhiladelphiaCompared to single nucleotide variants and short indels, structural variants (SVs) are often more challenging to detect using high-throughput sequencing based methods. Here, the authors develop LinkedSV, a computational tool for SV detection using linked-read exome and genome sequencing data.https://doi.org/10.1038/s41467-019-13397-7 |
| spellingShingle | Li Fang Charlly Kao Michael V. Gonzalez Fernanda A. Mafra Renata Pellegrino da Silva Mingyao Li Sören-Sebastian Wenzel Katharina Wimmer Hakon Hakonarson Kai Wang LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data Nature Communications |
| title | LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data |
| title_full | LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data |
| title_fullStr | LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data |
| title_full_unstemmed | LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data |
| title_short | LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data |
| title_sort | linkedsv for detection of mosaic structural variants from linked read exome and genome sequencing data |
| url | https://doi.org/10.1038/s41467-019-13397-7 |
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