Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease
Pediatric genetic conditions are caused by a spectrum of genomic alterations, including non-coding variants, which often fail to be identified using low throughput methods. Whole genome sequencing (WGS) can detect the full spectrum of genome alterations simultaneously, comprehensively, and unbiase...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Hrvatski liječnički zbor
2023-01-01
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| Series: | Liječnički vjesnik |
| Subjects: | |
| Online Access: | https://hrcak.srce.hr/file/438314 |
| _version_ | 1797206429592977408 |
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| author | Dina Gržan Marjan Kulaš Lea Jukić Petra Sulić Mario Ćuk |
| author_facet | Dina Gržan Marjan Kulaš Lea Jukić Petra Sulić Mario Ćuk |
| author_sort | Dina Gržan |
| collection | DOAJ |
| description | Pediatric genetic conditions are caused by a spectrum of genomic alterations, including non-coding variants, which often fail to be identified
using low throughput methods. Whole genome sequencing (WGS) can detect the full spectrum of genome alterations simultaneously, comprehensively, and unbiasedly. |
| first_indexed | 2024-04-24T09:06:53Z |
| format | Article |
| id | doaj.art-216aab777ebc4633b2b9dbff93ba9bfd |
| institution | Directory Open Access Journal |
| issn | 0024-3477 1849-2177 |
| language | English |
| last_indexed | 2024-04-24T09:06:53Z |
| publishDate | 2023-01-01 |
| publisher | Hrvatski liječnički zbor |
| record_format | Article |
| series | Liječnički vjesnik |
| spelling | doaj.art-216aab777ebc4633b2b9dbff93ba9bfd2024-04-15T18:37:24ZengHrvatski liječnički zborLiječnički vjesnik0024-34771849-21772023-01-01145Supp 2868610.26800/LV-145-supl2-CR79Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial diseaseDina Gržan0Marjan KulašLea JukićPetra SulićMario ĆukSchool of Medicine, University of Zagreb, Zagreb, CroatiaPediatric genetic conditions are caused by a spectrum of genomic alterations, including non-coding variants, which often fail to be identified using low throughput methods. Whole genome sequencing (WGS) can detect the full spectrum of genome alterations simultaneously, comprehensively, and unbiasedly.https://hrcak.srce.hr/file/438314Mitochondrial DiseasesMutationWhole Genome Sequencing |
| spellingShingle | Dina Gržan Marjan Kulaš Lea Jukić Petra Sulić Mario Ćuk Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease Liječnički vjesnik Mitochondrial Diseases Mutation Whole Genome Sequencing |
| title | Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease |
| title_full | Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease |
| title_fullStr | Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease |
| title_full_unstemmed | Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease |
| title_short | Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease |
| title_sort | whole genome joint analysis for identification of rare non coding causative variants case report of a child with mitochondrial disease |
| topic | Mitochondrial Diseases Mutation Whole Genome Sequencing |
| url | https://hrcak.srce.hr/file/438314 |
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