Evidence map›Paper›PMID 33972534›Full record

ArticleNature communications2021

Genoppi is an open-source software for robust and standardized integration of proteomic and genetic data.

Greta Pintacuda, Frederik H Lassen, Yu-Han H Hsu, April Kim, Jacqueline M Martín, Edyta Malolepsza, Justin K Lim, Nadine Fornelos, Kevin C Eggan, Kasper Lage

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
1.7field-weighted citation impact, top 15% of its field
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

17 citing papers in PubMed, 28 citations in OpenAlex.

  1. Article
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  3. Genome-wide rules of transcription factor cooperativity revealed throughbioRxiv : the preprint server for biology · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 1 institution in 3 countries.

Greta Pintacuda *Stanley Center at Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Frederik H Lassen *Stanley Center at Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-0312-209X
Yu-Han H Hsu *Stanley Center at Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-4063-0552
April Kim *Stanley Center at Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jacqueline M MartínStanley Center at Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Edyta MalolepszaStanley Center at Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Justin K LimStanley Center at Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nadine FornelosStanley Center at Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Kevin C EgganStanley Center at Broad Institute of MIT and Harvard, Cambridge, MA, USA. eggan@mcb.harvard.edu.ORCID 0000-0003-4436-8467
Kasper LageStanley Center at Broad Institute of MIT and Harvard, Cambridge, MA, USA. lage.kasper@mgh.harvard.edu.ORCID 0000-0001-6827-6239
Broad Institute · US

Funding

Training Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8M
Rare Sequence Variation and Diabetes Quantitative TraitsU01DK078616 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MEIGS, JAMES B · 2015 to 2019
$3.6M
2/3 Building Integrative CNS Networks for Genomic Analysis of AutismR01MH109903 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI HANSEN, KASPER LAGE · 2016 to 2020
$1.4M
Harvard Training Program in Bioinformatics Applied to Diabetes, Obesity and Metabolism.T32DK110919 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI FLOREZ, JOSE CARLOS, PATEL, CHIRAG J. · 2017 to 2021
$1.3M
From genetic risk variants to convergent protein networks: an integrative approach to elucidate the causal molecular mechanisms of schizophrenia.U01MH121499 · NIMH · BROAD INSTITUTE, INC. · PI HANSEN, KASPER LAGE · 2020 to 2020
$829k
NHGRI NIH HHS T32 HG002295NIDDK NIH HHS T32 DK110919NIDDK NIH HHS U01 DK078616NIMH NIH HHS R01 MH109903NIMH NIH HHS U01 MH121499
6 · The paper itself

Abstract

Combining genetic and cell-type-specific proteomic datasets can generate biological insights and therapeutic hypotheses, but a technical and statistical framework for such analyses is lacking. Here, we present an open-source computational tool called Genoppi (lagelab.org/genoppi) that enables robust, standardized, and intuitive integration of quantitative proteomic results with genetic data. We use Genoppi to analyze 16 cell-type-specific protein interaction datasets of four proteins (BCL2, TDP-43, MDM2, PTEN) involved in cancer and neurological disease. Through systematic quality control of the data and integration with published protein interactions, we show a general pattern of both cell-type-independent and cell-type-specific interactions across three cancer cell types and one human iPSC-derived neuronal cell type. Furthermore, through the integration of proteomic and genetic datasets in Genoppi, our results suggest that the neuron-specific interactions of these proteins are mediating their genetic involvement in neurodegenerative diseases. Importantly, our analyses suggest that human iPSC-derived neurons are a relevant model system for studying the involvement of BCL2 and TDP-43 in amyotrophic lateral sclerosis.

Indexed as

SoftwareCell Line, TumorCells, CulturedComputational BiologyDNA-Binding ProteinsGenome-Wide Association StudyGenomicsHumansInduced Pluripotent Stem CellsMutationNeoplasmsNeuronsPolymorphism, Single NucleotideProtein BindingProteomicsProto-Oncogene Proteins c-bcl-2BCL2 protein, humanDNA-Binding ProteinsMDM2 protein, humanProto-Oncogene Proteins c-bcl-2Proto-Oncogene Proteins c-mdm2TARDBP protein, human

Identifiers

PMID33972534
PMCPMC8110583
OpenAlexW3162147379

What OpenQuestion holds

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Registered trials

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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.