Evidence map›Paper›PMID 32203467›Full record

ReviewNature genetics2020

Modeling the complex genetic architectures of brain disease.

Michael B Fernando, Tim Ahfeldt, Kristen J Brennand

Open access · greenAbstract readReview
In one paragraph

Review in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
2.9field-weighted citation impact, top 8% 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

26 citing papers in PubMed, 49 citations in OpenAlex.

  1. Article
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  19. Human Pluripotent Stem Cell Differentiation to Microglia.Methods in molecular biology (Clifton, N.J.) · 2022
    Article
  20. Review
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

3 authors at 1 institution in 1 country.

Michael B FernandoGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-4620-8048
Tim AhfeldtNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Kristen J BrennandNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA. kristen.brennand@mssm.edu.ORCID http://orcid.org/0000-0003-0993-5956
Allen Institute for Brain Science · US

Funding

Higher Order Chromatin and Genetic Risk for SchizophreniaR01MH106056 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI AKBARIAN, SCHAHRAM, BRENNAND, KRISTEN JENNIFER · 2015 to 2023
$6.7M
Cell-type-specific NRXN1alpha alternative splicing changes in psychiatric diseaseR01MH121074 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BRENNAND, KRISTEN JENNIFER, FANG, GANG · 2019 to 2023
$4.4M
Integrated Multiscale Networks in SchizophreniaR01MH109897 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BRENNAND, KRISTEN JENNIFER, ROUSSOS, PANAGIOTIS · 2016 to 2020
$3.0M
Modeling the contribution of common variants to schizophrenia riskR56MH101454 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BRENNAND, KRISTEN JENNIFER, HUCKINS, LAURA MARIANNE · 2018 to 2019
$1.5M
NIMH NIH HHS R01 MH106056NIMH NIH HHS R01 MH109897NIMH NIH HHS R01 MH121074NIMH NIH HHS R56 MH101454
6 · The paper itself

Abstract

The genetic architecture of each individual comprises common and rare variants that, acting alone and in combination, confer risk of disease. The cell-type-specific and/or context-dependent functional consequences of the risk variants linked to brain disease must be resolved. Coupling human induced pluripotent stem cell (hiPSC)-based technology with CRISPR-based genome engineering facilitates precise isogenic comparisons of variants across genetic backgrounds. Although functional-validation studies are typically performed on one variant in isolation and in one cell type at a time, complex genetic diseases require multiplexed gene perturbations to interrogate combinations of genes and resolve physiologically relevant disease biology. Our aim is to discuss advances at the intersection of genomics, hiPSCs and CRISPR. A better understanding of the molecular mechanisms underlying disease risk will improve genetic diagnosis, drive phenotypic drug discovery and pave the way toward precision medicine.

Indexed as

AnimalsBrain DiseasesClustered Regularly Interspaced Short Palindromic RepeatsGenomeHumansInduced Pluripotent Stem CellsPrecision Medicine

Identifiers

PMID32203467
PMCPMC7909729
OpenAlexW3012565151

What OpenQuestion holds

Textmetadata
LicenceTDM
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.