Evidence map›Paper›PMID 38260496›Full record

ArticleResearch square2024

Deep generative modeling of the human proteome reveals over a hundred novel genes involved in rare genetic disorders.

Rose Orenbuch, Aaron W Kollasch, Hansen D Spinner, Courtney A Shearer, Thomas A Hopf, Dinko Franceschi, Mafalda Dias, Jonathan Frazer, Debora S Marks

Open access · greenAbstract readPreprint
In one paragraph

Article in Research square, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 2 countries.

Rose OrenbuchMarks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA.
Aaron W KollaschMarks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA.
Hansen D SpinnerMarks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA.
Courtney A ShearerMarks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA.
Thomas A HopfScientific Consulting, 85435 Erding, Germany.ORCID 0000-0002-7476-9539
Dinko FranceschiMarks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA.
Mafalda DiasDias & Frazer Group, Centre for Genomic Regulation (CRG),The Barcelona Institute of Science and Technology, Barcelona, Spain.
Jonathan FrazerDias & Frazer Group, Centre for Genomic Regulation (CRG),The Barcelona Institute of Science and Technology, Barcelona, Spain.
Debora S MarksMarks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-9388-2281
Harvard University · USUniversitat Pompeu Fabra · ESBroad Institute · US

Funding

Making antibody generation rapid, scalable, and democratic through machine learning and continuous evolutionR01CA260415 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI KRUSE, ANDREW, LIU, CHANG C · 2020 to 2024
$8.4M
NCI NIH HHS R01 CA260415
6 · The paper itself

Abstract

Identifying causal mutations accelerates genetic disease diagnosis, and therapeutic development. Missense variants present a bottleneck in genetic diagnoses as their effects are less straightforward than truncations or nonsense mutations. While computational prediction methods are increasingly successful at prediction for variants in

Identifiers

PMID38260496
PMCPMC10802723
OpenAlexW4390561615

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.