Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis

Sarah Morgan; Maryam Shoai; Pietro Fratta; Katie Sidle; Richard Orrell; Mary G Sweeney; Aleksey Shatunov; William Sproviero; Ashley Jones; Ammar Al-Chalabi; Andrea Malaspina; Henry Houlden; John Hardy; Alan Pittman

doi:10.1016/j.neurobiolaging.2014.12.017

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis

Sarah Morgan, Maryam Shoai, Pietro Fratta, Katie Sidle, Richard Orrell, Mary G Sweeney, Aleksey Shatunov, William Sproviero, Ashley Jones, Ammar Al-Chalabi, Andrea Malaspina, Henry Houlden, John Hardy, Alan Pittman

Research output: Contribution to journal › Article › peer-review

29 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	1600.e5-1600.e8
Number of pages	3
Journal	Neurobiology of Aging
Volume	36
Issue number	3
DOIs	https://doi.org/10.1016/j.neurobiolaging.2014.12.017
Publication status	Published - Mar 2015

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Morgan, S., Shoai, M., Fratta, P., Sidle, K., Orrell, R., Sweeney, M. G., Shatunov, A., Sproviero, W., Jones, A., Al-Chalabi, A., Malaspina, A., Houlden, H., Hardy, J., & Pittman, A. (2015). Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis. Neurobiology of Aging, 36(3), 1600.e5-1600.e8. https://doi.org/10.1016/j.neurobiolaging.2014.12.017

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title = "Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis",

abstract = "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.",

author = "Sarah Morgan and Maryam Shoai and Pietro Fratta and Katie Sidle and Richard Orrell and Sweeney, {Mary G} and Aleksey Shatunov and William Sproviero and Ashley Jones and Ammar Al-Chalabi and Andrea Malaspina and Henry Houlden and John Hardy and Alan Pittman",

year = "2015",

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doi = "10.1016/j.neurobiolaging.2014.12.017",

language = "English",

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Morgan, S, Shoai, M, Fratta, P, Sidle, K, Orrell, R, Sweeney, MG, Shatunov, A , Sproviero, W , Jones, A , Al-Chalabi, A, Malaspina, A, Houlden, H, Hardy, J & Pittman, A 2015, 'Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis', Neurobiology of Aging, vol. 36, no. 3, pp. 1600.e5-1600.e8. https://doi.org/10.1016/j.neurobiolaging.2014.12.017

TY - JOUR

T1 - Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis

AU - Morgan, Sarah

AU - Shoai, Maryam

AU - Fratta, Pietro

AU - Sidle, Katie

AU - Orrell, Richard

AU - Sweeney, Mary G

AU - Shatunov, Aleksey

AU - Sproviero, William

AU - Jones, Ashley

AU - Al-Chalabi, Ammar

AU - Malaspina, Andrea

AU - Houlden, Henry

AU - Hardy, John

AU - Pittman, Alan

PY - 2015/3

Y1 - 2015/3

N2 - 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.

AB - 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.

U2 - 10.1016/j.neurobiolaging.2014.12.017

DO - 10.1016/j.neurobiolaging.2014.12.017

M3 - Article

C2 - 25588603

SN - 0197-4580

VL - 36

SP - 1600.e5-1600.e8

JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 3

ER -

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis

Abstract

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