MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing
Conclusion: MaterniCode has proven to be an innovative and highly efficient tool in the domain of NIPT, demonstrating excellent sensitivity and specificity. Its robust capability to effectively detect a wide range of complex chromosomal aberrations, including rare and subtle variations, positions it...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-01-01
|
| Series: | International Journal of Genomics |
| Online Access: | http://dx.doi.org/10.1155/2024/8859058 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832546217172664320 |
|---|---|
| author | Federico Gabrielli Filomena Tiziana Papa Fabio Di Pietro Andreu Paytuví-Gallart Daniel Julian Walter Sanseverino Cinzia Alfonsi |
| author_facet | Federico Gabrielli Filomena Tiziana Papa Fabio Di Pietro Andreu Paytuví-Gallart Daniel Julian Walter Sanseverino Cinzia Alfonsi |
| author_sort | Federico Gabrielli |
| collection | DOAJ |
| description | Conclusion: MaterniCode has proven to be an innovative and highly efficient tool in the domain of NIPT, demonstrating excellent sensitivity and specificity. Its robust capability to effectively detect a wide range of complex chromosomal aberrations, including rare and subtle variations, positions it as a promising and valuable addition to prenatal diagnostic technologies. This enhancement to diagnostic precision significantly aids clinicians in making informed decisions during pregnancy management. |
| format | Article |
| id | doaj-art-bcc8d43d62f84f60a2097bf4b99491a3 |
| institution | Kabale University |
| issn | 2314-4378 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Genomics |
| spelling | doaj-art-bcc8d43d62f84f60a2097bf4b99491a32025-02-03T07:23:38ZengWileyInternational Journal of Genomics2314-43782024-01-01202410.1155/2024/8859058MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation SequencingFederico Gabrielli0Filomena Tiziana Papa1Fabio Di Pietro2Andreu Paytuví-Gallart3Daniel Julian4Walter Sanseverino5Cinzia Alfonsi6Biolab srl, Laboratorio di Genetica molecolare e GenomicaBiolab srl, Laboratorio di Genetica molecolare e GenomicaBiolab srl, Laboratorio di Genetica molecolare e GenomicaSequentia Biotech SLSequentia Biotech SLSequentia Biotech SLBiolab srl, Laboratorio di Genetica molecolare e GenomicaConclusion: MaterniCode has proven to be an innovative and highly efficient tool in the domain of NIPT, demonstrating excellent sensitivity and specificity. Its robust capability to effectively detect a wide range of complex chromosomal aberrations, including rare and subtle variations, positions it as a promising and valuable addition to prenatal diagnostic technologies. This enhancement to diagnostic precision significantly aids clinicians in making informed decisions during pregnancy management.http://dx.doi.org/10.1155/2024/8859058 |
| spellingShingle | Federico Gabrielli Filomena Tiziana Papa Fabio Di Pietro Andreu Paytuví-Gallart Daniel Julian Walter Sanseverino Cinzia Alfonsi MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing International Journal of Genomics |
| title | MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing |
| title_full | MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing |
| title_fullStr | MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing |
| title_full_unstemmed | MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing |
| title_short | MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing |
| title_sort | maternicode new bioinformatic pipeline to detect fetal aneuploidies and rearrangements using next generation sequencing |
| url | http://dx.doi.org/10.1155/2024/8859058 |
| work_keys_str_mv | AT federicogabrielli maternicodenewbioinformaticpipelinetodetectfetalaneuploidiesandrearrangementsusingnextgenerationsequencing AT filomenatizianapapa maternicodenewbioinformaticpipelinetodetectfetalaneuploidiesandrearrangementsusingnextgenerationsequencing AT fabiodipietro maternicodenewbioinformaticpipelinetodetectfetalaneuploidiesandrearrangementsusingnextgenerationsequencing AT andreupaytuvigallart maternicodenewbioinformaticpipelinetodetectfetalaneuploidiesandrearrangementsusingnextgenerationsequencing AT danieljulian maternicodenewbioinformaticpipelinetodetectfetalaneuploidiesandrearrangementsusingnextgenerationsequencing AT waltersanseverino maternicodenewbioinformaticpipelinetodetectfetalaneuploidiesandrearrangementsusingnextgenerationsequencing AT cinziaalfonsi maternicodenewbioinformaticpipelinetodetectfetalaneuploidiesandrearrangementsusingnextgenerationsequencing |