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NeoSeq: a new method of genomic sequencing for newborn screening
OBJECTIVE: To explore the clinical application of NeoSeq in newborn screening. METHODS: Based on the results obtained from traditional newborn screening (NBS) with tandem mass spectrometry (TMS), three cohorts were recruited into the present study: 36 true positive cases (TPC), 60 false-positive cas...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8600711/ https://www.ncbi.nlm.nih.gov/pubmed/34794485 http://dx.doi.org/10.1186/s13023-021-02116-5 |
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author | Wang, Huaiyan Yang, Yuqi Zhou, Lingna Wang, Yu Long, Wei Yu, Bin |
author_facet | Wang, Huaiyan Yang, Yuqi Zhou, Lingna Wang, Yu Long, Wei Yu, Bin |
author_sort | Wang, Huaiyan |
collection | PubMed |
description | OBJECTIVE: To explore the clinical application of NeoSeq in newborn screening. METHODS: Based on the results obtained from traditional newborn screening (NBS) with tandem mass spectrometry (TMS), three cohorts were recruited into the present study: 36 true positive cases (TPC), 60 false-positive cases (FPC), and 100 negative cases. The dried blood spots of the infants were analyzed with NeoSeq, which is based on multiplex PCR amplicon sequencing. RESULTS: Overall, the sensitivity of NeoSeq was 55.6% (20/36) in the detection of TPC. NeoSeq detected disease-related genes in 20 of 36 TPC infants, while it could not identify these genes in eight children. Five cases (3.1%) with disease risk were additionally found in the FPC and NC cohorts. There was a significant difference in the diagnostic time between the two methods—10 days for NeoSeq vs. 43 days for traditional NBS. CONCLUSIONS: NeoSeq is an economic genomic screening test for newborn screening. It can detect most inborn errors of metabolism, reduce the rate of false positive results, shorten the porting cycles, and reduce the screening cost. However, it is still necessary to further optimize the panel design and add more clinically relevant genomic variants to increase its sensitivity. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-02116-5. |
format | Online Article Text |
id | pubmed-8600711 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-86007112021-11-19 NeoSeq: a new method of genomic sequencing for newborn screening Wang, Huaiyan Yang, Yuqi Zhou, Lingna Wang, Yu Long, Wei Yu, Bin Orphanet J Rare Dis Research OBJECTIVE: To explore the clinical application of NeoSeq in newborn screening. METHODS: Based on the results obtained from traditional newborn screening (NBS) with tandem mass spectrometry (TMS), three cohorts were recruited into the present study: 36 true positive cases (TPC), 60 false-positive cases (FPC), and 100 negative cases. The dried blood spots of the infants were analyzed with NeoSeq, which is based on multiplex PCR amplicon sequencing. RESULTS: Overall, the sensitivity of NeoSeq was 55.6% (20/36) in the detection of TPC. NeoSeq detected disease-related genes in 20 of 36 TPC infants, while it could not identify these genes in eight children. Five cases (3.1%) with disease risk were additionally found in the FPC and NC cohorts. There was a significant difference in the diagnostic time between the two methods—10 days for NeoSeq vs. 43 days for traditional NBS. CONCLUSIONS: NeoSeq is an economic genomic screening test for newborn screening. It can detect most inborn errors of metabolism, reduce the rate of false positive results, shorten the porting cycles, and reduce the screening cost. However, it is still necessary to further optimize the panel design and add more clinically relevant genomic variants to increase its sensitivity. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-02116-5. BioMed Central 2021-11-18 /pmc/articles/PMC8600711/ /pubmed/34794485 http://dx.doi.org/10.1186/s13023-021-02116-5 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Wang, Huaiyan Yang, Yuqi Zhou, Lingna Wang, Yu Long, Wei Yu, Bin NeoSeq: a new method of genomic sequencing for newborn screening |
title | NeoSeq: a new method of genomic sequencing for newborn screening |
title_full | NeoSeq: a new method of genomic sequencing for newborn screening |
title_fullStr | NeoSeq: a new method of genomic sequencing for newborn screening |
title_full_unstemmed | NeoSeq: a new method of genomic sequencing for newborn screening |
title_short | NeoSeq: a new method of genomic sequencing for newborn screening |
title_sort | neoseq: a new method of genomic sequencing for newborn screening |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8600711/ https://www.ncbi.nlm.nih.gov/pubmed/34794485 http://dx.doi.org/10.1186/s13023-021-02116-5 |
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