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The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders
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| Zeitschriftentitel: | Clinical Genetics |
|---|---|
| Personen und Körperschaften: | , , , , , , , |
| In: | Clinical Genetics, 96, 2019, 2, S. 140-150 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Jiao, Qingguo Sun, Haiming Zhang, Haoya Wang, Ran Li, Suting Sun, Dan Yang, Xiu‐An Jin, Yan Jiao, Qingguo Sun, Haiming Zhang, Haoya Wang, Ran Li, Suting Sun, Dan Yang, Xiu‐An Jin, Yan |
|---|---|
| author |
Jiao, Qingguo Sun, Haiming Zhang, Haoya Wang, Ran Li, Suting Sun, Dan Yang, Xiu‐An Jin, Yan |
| spellingShingle |
Jiao, Qingguo Sun, Haiming Zhang, Haoya Wang, Ran Li, Suting Sun, Dan Yang, Xiu‐An Jin, Yan Clinical Genetics The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders Genetics (clinical) Genetics |
| author_sort |
jiao, qingguo |
| spelling |
Jiao, Qingguo Sun, Haiming Zhang, Haoya Wang, Ran Li, Suting Sun, Dan Yang, Xiu‐An Jin, Yan 0009-9163 1399-0004 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1111/cge.13548 <jats:title>Abstract</jats:title><jats:p>This retrospective study aims to investigate the diagnostic yields of multiple strategies of next‐generation sequencing (NGS) for children with rare neurological disorders (NDs). A total of 220 pediatric patients with NDs who visited our hospital between Jan 2017 and Dec 2018 and had undergone NGS were included. Most patients were 5 years old or younger, and the number of patients visiting the hospital decreased with age. Seizures were the most common symptom in this cohort. The positive rates for targeted NGS panels (Panel), whole‐exome sequencing (WES), and copy number variation sequencing (CNVseq) were 26.5% (9/34), 36.6% (63/172), and 16.7% (22/132), respectively. The positive rate for patients undergoing a combination of WES and CNVseq (WES + CNVseq) was 47.8% (54/113), which was significantly better than the positive rate for patients who underwent WES alone (32.7%, 37/113). A total of 83 variants were found in 42 genes, and <jats:italic>SCN1A</jats:italic> was the most frequently mutanted gene. Twenty‐four CNVs were identified in 22 patients: two CNVs were inherited from the mother; 12 CNVs were de novo; and the CNV origins could not be determined in 10 patients. WES + CNVseq may potentially be the mostly effective NGS approach for diagnosis of rare NDs in pediatric patients.</jats:p> The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders Clinical Genetics |
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The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| title_unstemmed |
The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| title_full |
The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| title_fullStr |
The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| title_full_unstemmed |
The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| title_short |
The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| title_sort |
the combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| topic |
Genetics (clinical) Genetics |
| url |
http://dx.doi.org/10.1111/cge.13548 |
| publishDate |
2019 |
| physical |
140-150 |
| description |
<jats:title>Abstract</jats:title><jats:p>This retrospective study aims to investigate the diagnostic yields of multiple strategies of next‐generation sequencing (NGS) for children with rare neurological disorders (NDs). A total of 220 pediatric patients with NDs who visited our hospital between Jan 2017 and Dec 2018 and had undergone NGS were included. Most patients were 5 years old or younger, and the number of patients visiting the hospital decreased with age. Seizures were the most common symptom in this cohort. The positive rates for targeted NGS panels (Panel), whole‐exome sequencing (WES), and copy number variation sequencing (CNVseq) were 26.5% (9/34), 36.6% (63/172), and 16.7% (22/132), respectively. The positive rate for patients undergoing a combination of WES and CNVseq (WES + CNVseq) was 47.8% (54/113), which was significantly better than the positive rate for patients who underwent WES alone (32.7%, 37/113). A total of 83 variants were found in 42 genes, and <jats:italic>SCN1A</jats:italic> was the most frequently mutanted gene. Twenty‐four CNVs were identified in 22 patients: two CNVs were inherited from the mother; 12 CNVs were de novo; and the CNV origins could not be determined in 10 patients. WES + CNVseq may potentially be the mostly effective NGS approach for diagnosis of rare NDs in pediatric patients.</jats:p> |
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| author | Jiao, Qingguo, Sun, Haiming, Zhang, Haoya, Wang, Ran, Li, Suting, Sun, Dan, Yang, Xiu‐An, Jin, Yan |
| author_facet | Jiao, Qingguo, Sun, Haiming, Zhang, Haoya, Wang, Ran, Li, Suting, Sun, Dan, Yang, Xiu‐An, Jin, Yan, Jiao, Qingguo, Sun, Haiming, Zhang, Haoya, Wang, Ran, Li, Suting, Sun, Dan, Yang, Xiu‐An, Jin, Yan |
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| description | <jats:title>Abstract</jats:title><jats:p>This retrospective study aims to investigate the diagnostic yields of multiple strategies of next‐generation sequencing (NGS) for children with rare neurological disorders (NDs). A total of 220 pediatric patients with NDs who visited our hospital between Jan 2017 and Dec 2018 and had undergone NGS were included. Most patients were 5 years old or younger, and the number of patients visiting the hospital decreased with age. Seizures were the most common symptom in this cohort. The positive rates for targeted NGS panels (Panel), whole‐exome sequencing (WES), and copy number variation sequencing (CNVseq) were 26.5% (9/34), 36.6% (63/172), and 16.7% (22/132), respectively. The positive rate for patients undergoing a combination of WES and CNVseq (WES + CNVseq) was 47.8% (54/113), which was significantly better than the positive rate for patients who underwent WES alone (32.7%, 37/113). A total of 83 variants were found in 42 genes, and <jats:italic>SCN1A</jats:italic> was the most frequently mutanted gene. Twenty‐four CNVs were identified in 22 patients: two CNVs were inherited from the mother; 12 CNVs were de novo; and the CNV origins could not be determined in 10 patients. WES + CNVseq may potentially be the mostly effective NGS approach for diagnosis of rare NDs in pediatric patients.</jats:p> |
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| spelling | Jiao, Qingguo Sun, Haiming Zhang, Haoya Wang, Ran Li, Suting Sun, Dan Yang, Xiu‐An Jin, Yan 0009-9163 1399-0004 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1111/cge.13548 <jats:title>Abstract</jats:title><jats:p>This retrospective study aims to investigate the diagnostic yields of multiple strategies of next‐generation sequencing (NGS) for children with rare neurological disorders (NDs). A total of 220 pediatric patients with NDs who visited our hospital between Jan 2017 and Dec 2018 and had undergone NGS were included. Most patients were 5 years old or younger, and the number of patients visiting the hospital decreased with age. Seizures were the most common symptom in this cohort. The positive rates for targeted NGS panels (Panel), whole‐exome sequencing (WES), and copy number variation sequencing (CNVseq) were 26.5% (9/34), 36.6% (63/172), and 16.7% (22/132), respectively. The positive rate for patients undergoing a combination of WES and CNVseq (WES + CNVseq) was 47.8% (54/113), which was significantly better than the positive rate for patients who underwent WES alone (32.7%, 37/113). A total of 83 variants were found in 42 genes, and <jats:italic>SCN1A</jats:italic> was the most frequently mutanted gene. Twenty‐four CNVs were identified in 22 patients: two CNVs were inherited from the mother; 12 CNVs were de novo; and the CNV origins could not be determined in 10 patients. WES + CNVseq may potentially be the mostly effective NGS approach for diagnosis of rare NDs in pediatric patients.</jats:p> The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders Clinical Genetics |
| spellingShingle | Jiao, Qingguo, Sun, Haiming, Zhang, Haoya, Wang, Ran, Li, Suting, Sun, Dan, Yang, Xiu‐An, Jin, Yan, Clinical Genetics, The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders, Genetics (clinical), Genetics |
| title | The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| title_full | The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| title_fullStr | The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| title_full_unstemmed | The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| title_short | The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| title_sort | the combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| title_unstemmed | The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
| topic | Genetics (clinical), Genetics |
| url | http://dx.doi.org/10.1111/cge.13548 |