High-performance DNA sequencing to identify genetically determined diseases in pediatric practice
In recent years the technology of new generation sequencing technology (NGS) has become an important diagnostic tool in pediatrics. In the genetic pediatric clinic there were analyzed the results of the use of full excome sequencing in 42 children with the retardation of mental and physical developm...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2019-03-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/829 |
| _version_ | 1797875180973850624 |
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| author | V. Yu. Voinova E. A. Nikolaeva N. V. Shсherbakova M. I. Yuablonskaya |
| author_facet | V. Yu. Voinova E. A. Nikolaeva N. V. Shсherbakova M. I. Yuablonskaya |
| author_sort | V. Yu. Voinova |
| collection | DOAJ |
| description | In recent years the technology of new generation sequencing technology (NGS) has become an important diagnostic tool in pediatrics. In the genetic pediatric clinic there were analyzed the results of the use of full excome sequencing in 42 children with the retardation of mental and physical development and / or abnormalities of various organs and systems. There was established a primary genetic diagnosis in 19 patients, and thus, the effectiveness of exomic sequencing was 45%, which is slightly higher than the effectiveness of NGS given in the literature sources. The article presents clinical observations of the cases of primary, or double diagnosis, prognostic secondary variant, examples of errors in the interpretation of sequencing data. The authors emphasize the importance of studying family mutations not only among the parents, but also other relatives of the patient. In particular, in case of the identification of X-linked genetic variants, the authors justify the necessity of analysis in three family generations. |
| first_indexed | 2024-04-10T01:43:30Z |
| format | Article |
| id | doaj.art-87a89e6f9fea49b9ae4fbed24c7a054c |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:43:30Z |
| publishDate | 2019-03-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-87a89e6f9fea49b9ae4fbed24c7a054c2023-03-13T09:12:46ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282019-03-0164110310910.21508/1027-4065-2019-64-1-103-109706High-performance DNA sequencing to identify genetically determined diseases in pediatric practiceV. Yu. Voinova0E. A. Nikolaeva1N. V. Shсherbakova2M. I. Yuablonskaya3Научно-исследовательский клинический институт педиатрии им. акад. Ю.Е. Вельтищева РНИМУ им. Н.И. Пирогова Минздрава РоссииНаучно-исследовательский клинический институт педиатрии им. акад. Ю.Е. Вельтищева РНИМУ им. Н.И. Пирогова Минздрава РоссииНаучно-исследовательский клинический институт педиатрии им. акад. Ю.Е. Вельтищева РНИМУ им. Н.И. Пирогова Минздрава РоссииНаучно-исследовательский клинический институт педиатрии им. акад. Ю.Е. Вельтищева РНИМУ им. Н.И. Пирогова Минздрава РоссииIn recent years the technology of new generation sequencing technology (NGS) has become an important diagnostic tool in pediatrics. In the genetic pediatric clinic there were analyzed the results of the use of full excome sequencing in 42 children with the retardation of mental and physical development and / or abnormalities of various organs and systems. There was established a primary genetic diagnosis in 19 patients, and thus, the effectiveness of exomic sequencing was 45%, which is slightly higher than the effectiveness of NGS given in the literature sources. The article presents clinical observations of the cases of primary, or double diagnosis, prognostic secondary variant, examples of errors in the interpretation of sequencing data. The authors emphasize the importance of studying family mutations not only among the parents, but also other relatives of the patient. In particular, in case of the identification of X-linked genetic variants, the authors justify the necessity of analysis in three family generations.https://www.ped-perinatology.ru/jour/article/view/829детинаследственные болезниполноэкзомное секвенированиесеквенирование нового поколенияинтерпретация данных секвенированияпервичный диагнозвозможный диагноздвойной диагнозпрогностический вторичный вариант |
| spellingShingle | V. Yu. Voinova E. A. Nikolaeva N. V. Shсherbakova M. I. Yuablonskaya High-performance DNA sequencing to identify genetically determined diseases in pediatric practice Rossijskij Vestnik Perinatologii i Pediatrii дети наследственные болезни полноэкзомное секвенирование секвенирование нового поколения интерпретация данных секвенирования первичный диагноз возможный диагноз двойной диагноз прогностический вторичный вариант |
| title | High-performance DNA sequencing to identify genetically determined diseases in pediatric practice |
| title_full | High-performance DNA sequencing to identify genetically determined diseases in pediatric practice |
| title_fullStr | High-performance DNA sequencing to identify genetically determined diseases in pediatric practice |
| title_full_unstemmed | High-performance DNA sequencing to identify genetically determined diseases in pediatric practice |
| title_short | High-performance DNA sequencing to identify genetically determined diseases in pediatric practice |
| title_sort | high performance dna sequencing to identify genetically determined diseases in pediatric practice |
| topic | дети наследственные болезни полноэкзомное секвенирование секвенирование нового поколения интерпретация данных секвенирования первичный диагноз возможный диагноз двойной диагноз прогностический вторичный вариант |
| url | https://www.ped-perinatology.ru/jour/article/view/829 |
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