Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis
The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-link...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Morgan, Sarah [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2015transfer abstract |
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| Schlagwörter: |
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| Umfang: |
4 |
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| Übergeordnetes Werk: |
Enthalten in: Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors - Zidane, Mustapha ELSEVIER, 2021, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:36 ; year:2015 ; number:3 ; pages:16005-16008 ; extent:4 |
| Links: |
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| DOI / URN: |
10.1016/j.neurobiolaging.2014.12.017 |
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| 520 | |a The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. | ||
| 520 | |a The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. | ||
| 650 | 7 | |a Next-generation sequencing |2 Elsevier | |
| 650 | 7 | |a Neurogenetics |2 Elsevier | |
| 650 | 7 | |a ALS |2 Elsevier | |
| 650 | 7 | |a Genetic |2 Elsevier | |
| 650 | 7 | |a Amyotrophic lateral sclerosis |2 Elsevier | |
| 650 | 7 | |a Diagnosis |2 Elsevier | |
| 650 | 7 | |a NGS |2 Elsevier | |
| 650 | 7 | |a Sequencing |2 Elsevier | |
| 650 | 7 | |a MiSeq |2 Elsevier | |
| 700 | 1 | |a Shoai, Maryam |4 oth | |
| 700 | 1 | |a Fratta, Pietro |4 oth | |
| 700 | 1 | |a Sidle, Katie |4 oth | |
| 700 | 1 | |a Orrell, Richard |4 oth | |
| 700 | 1 | |a Sweeney, Mary G. |4 oth | |
| 700 | 1 | |a Shatunov, Aleksey |4 oth | |
| 700 | 1 | |a Sproviero, William |4 oth | |
| 700 | 1 | |a Jones, Ashley |4 oth | |
| 700 | 1 | |a Al-Chalabi, Ammar |4 oth | |
| 700 | 1 | |a Malaspina, Andrea |4 oth | |
| 700 | 1 | |a Houlden, Henry |4 oth | |
| 700 | 1 | |a Hardy, John |4 oth | |
| 700 | 1 | |a Pittman, Alan |4 oth | |
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10.1016/j.neurobiolaging.2014.12.017 doi GBVA2015008000023.pica (DE-627)ELV018420249 (ELSEVIER)S0197-4580(14)00833-1 DE-627 ger DE-627 rakwb eng 610 610 DE-600 550 520 VZ 38.70 bkl 39.53 bkl Morgan, Sarah verfasserin aut Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. Next-generation sequencing Elsevier Neurogenetics Elsevier ALS Elsevier Genetic Elsevier Amyotrophic lateral sclerosis Elsevier Diagnosis Elsevier NGS Elsevier Sequencing Elsevier MiSeq Elsevier Shoai, Maryam oth Fratta, Pietro oth Sidle, Katie oth Orrell, Richard oth Sweeney, Mary G. oth Shatunov, Aleksey oth Sproviero, William oth Jones, Ashley oth Al-Chalabi, Ammar oth Malaspina, Andrea oth Houlden, Henry oth Hardy, John oth Pittman, Alan oth Enthalten in Elsevier Science Zidane, Mustapha ELSEVIER Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors 2021 Amsterdam [u.a.] (DE-627)ELV005660645 volume:36 year:2015 number:3 pages:16005-16008 extent:4 https://doi.org/10.1016/j.neurobiolaging.2014.12.017 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO SSG-OPC-AST 38.70 Geophysik: Allgemeines VZ 39.53 Planeten VZ AR 36 2015 3 16005-16008 4 36.2015, 3, 1600.e5-, (4 S.) 045F 610 |
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10.1016/j.neurobiolaging.2014.12.017 doi GBVA2015008000023.pica (DE-627)ELV018420249 (ELSEVIER)S0197-4580(14)00833-1 DE-627 ger DE-627 rakwb eng 610 610 DE-600 550 520 VZ 38.70 bkl 39.53 bkl Morgan, Sarah verfasserin aut Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. Next-generation sequencing Elsevier Neurogenetics Elsevier ALS Elsevier Genetic Elsevier Amyotrophic lateral sclerosis Elsevier Diagnosis Elsevier NGS Elsevier Sequencing Elsevier MiSeq Elsevier Shoai, Maryam oth Fratta, Pietro oth Sidle, Katie oth Orrell, Richard oth Sweeney, Mary G. oth Shatunov, Aleksey oth Sproviero, William oth Jones, Ashley oth Al-Chalabi, Ammar oth Malaspina, Andrea oth Houlden, Henry oth Hardy, John oth Pittman, Alan oth Enthalten in Elsevier Science Zidane, Mustapha ELSEVIER Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors 2021 Amsterdam [u.a.] (DE-627)ELV005660645 volume:36 year:2015 number:3 pages:16005-16008 extent:4 https://doi.org/10.1016/j.neurobiolaging.2014.12.017 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO SSG-OPC-AST 38.70 Geophysik: Allgemeines VZ 39.53 Planeten VZ AR 36 2015 3 16005-16008 4 36.2015, 3, 1600.e5-, (4 S.) 045F 610 |
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10.1016/j.neurobiolaging.2014.12.017 doi GBVA2015008000023.pica (DE-627)ELV018420249 (ELSEVIER)S0197-4580(14)00833-1 DE-627 ger DE-627 rakwb eng 610 610 DE-600 550 520 VZ 38.70 bkl 39.53 bkl Morgan, Sarah verfasserin aut Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. Next-generation sequencing Elsevier Neurogenetics Elsevier ALS Elsevier Genetic Elsevier Amyotrophic lateral sclerosis Elsevier Diagnosis Elsevier NGS Elsevier Sequencing Elsevier MiSeq Elsevier Shoai, Maryam oth Fratta, Pietro oth Sidle, Katie oth Orrell, Richard oth Sweeney, Mary G. oth Shatunov, Aleksey oth Sproviero, William oth Jones, Ashley oth Al-Chalabi, Ammar oth Malaspina, Andrea oth Houlden, Henry oth Hardy, John oth Pittman, Alan oth Enthalten in Elsevier Science Zidane, Mustapha ELSEVIER Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors 2021 Amsterdam [u.a.] (DE-627)ELV005660645 volume:36 year:2015 number:3 pages:16005-16008 extent:4 https://doi.org/10.1016/j.neurobiolaging.2014.12.017 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO SSG-OPC-AST 38.70 Geophysik: Allgemeines VZ 39.53 Planeten VZ AR 36 2015 3 16005-16008 4 36.2015, 3, 1600.e5-, (4 S.) 045F 610 |
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10.1016/j.neurobiolaging.2014.12.017 doi GBVA2015008000023.pica (DE-627)ELV018420249 (ELSEVIER)S0197-4580(14)00833-1 DE-627 ger DE-627 rakwb eng 610 610 DE-600 550 520 VZ 38.70 bkl 39.53 bkl Morgan, Sarah verfasserin aut Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. Next-generation sequencing Elsevier Neurogenetics Elsevier ALS Elsevier Genetic Elsevier Amyotrophic lateral sclerosis Elsevier Diagnosis Elsevier NGS Elsevier Sequencing Elsevier MiSeq Elsevier Shoai, Maryam oth Fratta, Pietro oth Sidle, Katie oth Orrell, Richard oth Sweeney, Mary G. oth Shatunov, Aleksey oth Sproviero, William oth Jones, Ashley oth Al-Chalabi, Ammar oth Malaspina, Andrea oth Houlden, Henry oth Hardy, John oth Pittman, Alan oth Enthalten in Elsevier Science Zidane, Mustapha ELSEVIER Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors 2021 Amsterdam [u.a.] (DE-627)ELV005660645 volume:36 year:2015 number:3 pages:16005-16008 extent:4 https://doi.org/10.1016/j.neurobiolaging.2014.12.017 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO SSG-OPC-AST 38.70 Geophysik: Allgemeines VZ 39.53 Planeten VZ AR 36 2015 3 16005-16008 4 36.2015, 3, 1600.e5-, (4 S.) 045F 610 |
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10.1016/j.neurobiolaging.2014.12.017 doi GBVA2015008000023.pica (DE-627)ELV018420249 (ELSEVIER)S0197-4580(14)00833-1 DE-627 ger DE-627 rakwb eng 610 610 DE-600 550 520 VZ 38.70 bkl 39.53 bkl Morgan, Sarah verfasserin aut Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. Next-generation sequencing Elsevier Neurogenetics Elsevier ALS Elsevier Genetic Elsevier Amyotrophic lateral sclerosis Elsevier Diagnosis Elsevier NGS Elsevier Sequencing Elsevier MiSeq Elsevier Shoai, Maryam oth Fratta, Pietro oth Sidle, Katie oth Orrell, Richard oth Sweeney, Mary G. oth Shatunov, Aleksey oth Sproviero, William oth Jones, Ashley oth Al-Chalabi, Ammar oth Malaspina, Andrea oth Houlden, Henry oth Hardy, John oth Pittman, Alan oth Enthalten in Elsevier Science Zidane, Mustapha ELSEVIER Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors 2021 Amsterdam [u.a.] (DE-627)ELV005660645 volume:36 year:2015 number:3 pages:16005-16008 extent:4 https://doi.org/10.1016/j.neurobiolaging.2014.12.017 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO SSG-OPC-AST 38.70 Geophysik: Allgemeines VZ 39.53 Planeten VZ AR 36 2015 3 16005-16008 4 36.2015, 3, 1600.e5-, (4 S.) 045F 610 |
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Enthalten in Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors Amsterdam [u.a.] volume:36 year:2015 number:3 pages:16005-16008 extent:4 |
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Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis |
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The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. |
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The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. |
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The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS. |
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