کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6804738 | 1433558 | 2015 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis
ترجمه فارسی عنوان
بررسی تکنولوژی توالی نسل بعدی به عنوان یک ابزار تشخیصی برای اسکلروز جانبی آمیوتروفی
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 36, Issue 3, March 2015, Pages 1600.e5-1600.e8
Journal: Neurobiology of Aging - Volume 36, Issue 3, March 2015, Pages 1600.e5-1600.e8
نویسندگان
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,