Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.
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DOI：
10.1038/s41593-021-01006-0
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发表时间：
2022-03
影响因子：
25
通讯作者：
Rothstein JD
中科院分区：
文献类型：
--
作者：
Baxi EG;Thompson T;Li J;Kaye JA;Lim RG;Wu J;Ramamoorthy D;Lima L;Vaibhav V;Matlock A;Frank A;Coyne AN;Landin B;Ornelas L;Mosmiller E;Thrower S;Farr SM;Panther L;Gomez E;Galvez E;Perez D;Meepe I;Lei S;Mandefro B;Trost H;Pinedo L;Banuelos MG;Liu C;Moran R;Garcia V;Workman M;Ho R;Wyman S;Roggenbuck J;Harms MB;Stocksdale J;Miramontes R;Wang K;Venkatraman V;Holewenski R;Sundararaman N;Pandey R;Manalo DM;Donde A;Huynh N;Adam M;Wassie BT;Vertudes E;Amirani N;Raja K;Thomas R;Hayes L;Lenail A;Cerezo A;Luppino S;Farrar A;Pothier L;Prina C;Morgan T;Jamil A;Heintzman S;Jockel-Balsarotti J;Karanja E;Markway J;McCallum M;Joslin B;Alibazoglu D;Kolb S;Ajroud-Driss S;Baloh R;Heitzman D;Miller T;Glass JD;Patel-Murray NL;Yu H;Sinani E;Vigneswaran P;Sherman AV;Ahmad O;Roy P;Beavers JC;Zeiler S;Krakauer JW;Agurto C;Cecchi G;Bellard M;Raghav Y;Sachs K;Ehrenberger T;Bruce E;Cudkowicz ME;Maragakis N;Norel R;Van Eyk JE;Finkbeiner S;Berry J;Sareen D;Thompson LM;Fraenkel E;Svendsen CN;Rothstein JD
Answer ALS is a biological and clinical resource of patient-derived, induced pluripotent stem (iPS) cell lines, multi-omic data derived from iPS neurons and longitudinal clinical and smartphone data from over 1,000 patients with ALS. This resource provides population-level biological and clinical data that may be employed to identify clinical–molecular–biochemical subtypes of amyotrophic lateral sclerosis (ALS). A unique smartphone-based system was employed to collect deep clinical data, including fine motor activity, speech, breathing and linguistics/cognition. The iPS spinal neurons were blood derived from each patient and these cells underwent multi-omic analytics including whole-genome sequencing, RNA transcriptomics, ATAC-sequencing and proteomics. The intent of these data is for the generation of integrated clinical and biological signatures using bioinformatics, statistics and computational biology to establish patterns that may lead to a better understanding of the underlying mechanisms of disease, including subgroup identification. A web portal for open-source sharing of all data was developed for widespread community-based data analytics. Answer ALS is a resource of patient-derived iPS cell lines, multi-omic data derived from iPS neurons and longitudinal clinical and smartphone data from over 1,000 patients with ALS. This serves as a foundation to identify distinct disease subgroups.
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DOI：
10.1093/bioinformatics/btu638
发表时间：
2015-01-15
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Anders S;Pyl PT;Huber W
通讯作者：
Huber W
影响因子：
3.4
作者：
Elsheikh B;Arnold WD;Gharibshahi S;Reynolds J;Freimer M;Kissel JT
通讯作者：
Kissel JT
影响因子：
5.3
作者：
Arrasate, Montserrat;Finkbeiner, Steven
通讯作者：
Finkbeiner, Steven
影响因子：
7
作者：
Boyle AP;Hong EL;Hariharan M;Cheng Y;Schaub MA;Kasowski M;Karczewski KJ;Park J;Hitz BC;Weng S;Cherry JM;Snyder M
通讯作者：
Snyder M
DOI：
10.1073/pnas.1202922109
发表时间：
2012-04-10
影响因子：
11.1
作者：
Bilican, Bilada;Serio, Andrea;Chandran, Siddharthan
通讯作者：
Chandran, Siddharthan