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Answer ALS: A Large-Scale Resource for Sporadic and Familial ALS Combining Clinical Data with Multi-Omics Data from Induced Pluripotent Cell Lines
Rothstein J, Berry J, Svendsen C, Thompson L, Finkbeiner S, Eyk JV, Fraenkel E, Cudkowicz M et al.. Research Square, 2020-10-28
Topic: Brain proteins, microglia and lab models
Abstract Answer ALS is a comprehensive multi-omics approach to ALS to ascertain, at a population level, the various clinical-molecular- biochemical subtypes of sporadic ALS. This national program enrolled 1046 ALS and ALS/FTD patients along with a cohort of 100 matched control patients followed longitudinally over at least one year. A smartphone-based app was employed to collect deep clinical data including fine motor activity, speech, breathing and linguistics/cognition. Analytics of the speech patterns revealed a strong correlation between clinical progression indices and speech. In parallel, blood-derived iPS motor neurons were generated from each patient and the cells underwent multi-omics analytics including whole genome sequencing, RNA transcriptomics, ATAC-Seq and proteome along with quality assurance standards. HIPPA compliant cloud data bases were employed to store all data. There are more than 6 billion clinical and molecular data points per patient generated in the program. The program was designed, and patient consented, to be open access to all clinical, biological and molecular data as well as public release of all generated iPS cell lines. A web portal is available to academics as well as commercial researchers. The ultimate intent of this 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. Overall, this community based clinical and science program provides for the identification of distinct reliably identifiable subgroups among the sporadic and familial patients and the great utility in iPS based approaches to disease pathophysiology and therapy discovery. Although the data is ALS centric, given the large number of both ALS and control data sets, it would also be enormously useful to others studying frontotemporal dementia, Alzheimer’s, Parkinson’s disease and others.
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APA 7th
Rothstein, J., Berry, J., Svendsen, C., Thompson, L., Finkbeiner, S., Eyk, J. V., et al. (2020). Answer ALS: A Large-Scale Resource for Sporadic and Familial ALS Combining Clinical Data with Multi-Omics Data from Induced Pluripotent Cell Lines. Research Square. https://doi.org/10.21203/rs.3.rs-96858/v1
Vancouver
Rothstein J, Berry J, Svendsen C, Thompson L, Finkbeiner S, Eyk JV, et al. Answer ALS: A Large-Scale Resource for Sporadic and Familial ALS Combining Clinical Data with Multi-Omics Data from Induced Pluripotent Cell Lines. Research Square. 2020. doi:10.21203/rs.3.rs-96858/v1.
BibTeX
@article{rothstein2020-6e340a67,
author = {Rothstein, J. and Berry, J. and Svendsen, C. and Thompson, L. and Finkbeiner, S. and Eyk, J. V. and Fraenkel, E. and Cudkowicz, M. and others},
title = {{Answer ALS: A Large-Scale Resource for Sporadic and Familial ALS Combining Clinical Data with Multi-Omics Data from Induced Pluripotent Cell Lines}},
journal = {Research Square},
year = {2020},
doi = {10.21203/rs.3.rs-96858/v1},
url = {https://doi.org/10.21203/rs.3.rs-96858/v1}
}
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Key findings
- Analytics of the speech patterns revealed a strong correlation between clinical progression indices and speech.
- Overall, this community based clinical and science program provides for the identification of distinct reliably identifiable subgroups among the sporadic and familial patients and the great utility in iPS based approaches to disease pathophysiology and therapy discovery.
Study details
- Participants1,046
- Evidence strengthModerate
How this study scored 16/100
Preprint — not yet peer-reviewed. It scored 24 on the same rubric, but non-peer-reviewed sources are capped at 16, so it shows as 16. Scored zero for study design, effect reported and randomised / blinded because the record does not state it. We have no data on times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record and multi-centre collaboration, so those were left out: it earned 15 of the 62 points we could judge it on, which is 24 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 2 / 10 | Tier 4 — not a peer-reviewed journal (Research Square) |
| Journal's citation record | 0 / 4 | Not a journal article, so the journal's record does not count |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 4 / 10 | Preprint — not yet peer-reviewed. Hosted on a preprint server. |
| How recent | 2 / 5 | 2020 — within 10 year(s) of the newest study here |
| Sample size | 3 / 4 | 1,046 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Laboratory or animal study (title names “cell lines”) — scores zero |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 1 / 2 | Not in PubMed, but has a DOI |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 15 / 62 | Scored on 12 of 20 parts. We have no data for the rest, so they are left out: 15 of the 62 points we could judge it on is 24 out of 100. |
| Total | 24 / 100 | Capped to 16 because this is not a peer-reviewed article. |
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