Evidence map›Paper›PMID 38428388›Full record

ReviewCell2024

Genetic and molecular architecture of complex traits.

Tuuli Lappalainen, Yang I Li, Sohini Ramachandran, Alexander Gusev

Abstract readReview
In one paragraph

Review in Cell, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
77citing papers in PubMed, 2 pooled it
–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

77 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  7. Review
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  13. Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026
    Review
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17 more citing papers are in PubMed but not listed here.

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

4 authors.

Tuuli LappalainenNew York Genome Center, New York, NY, USA; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden. Electronic address: tlappalainen@nygenome.org.
Yang I LiSection of Genetic Medicine, University of Chicago, Chicago, IL, USA; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Sohini RamachandranEcology, Evolution and Organismal Biology, Center for Computational Molecular Biology, and the Data Science Institute, Brown University, Providence, RI 029129, USA.
Alexander GusevHarvard Medical School and Dana-Farber Cancer Institute, Boston, MA, USA.

Funding

Developmental GTEx Laboratory, Data Analysis and Coordination CenterU24HG012090 · NHGRI · BROAD INSTITUTE, INC. · PI ARDLIE, KRISTIN, GETZ, GAD A · 2021 to 2025
$12.6M
Methods for Genome-wide Association Studies in Admixed PopulationsR01HG006399 · NHGRI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2011 to 2024
$6.3M
Statistical models for fine-mapping and interpretation of schizophrenia-associated lociR01MH106842 · NIMH · NEW YORK GENOME CENTER · PI BUSSEMAKER, HARMEN J, LAPPALAINEN, TUULI · 2015 to 2024
$5.0M
UNDERSTANDING CELLULAR AND TRANSCRIPTIONAL REGULATORY CHANGES IN HUMAN AGINGR01AG057422 · NIA · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI GREALLY, JOHN, LAPPALAINEN, TUULI · 2018 to 2022
$4.5M
Novel methods to detect and interpret splicing quantitative trait loci - RenewalR01HG011067 · NHGRI · UNIVERSITY OF CHICAGO · PI Yang Li, JONATHAN P STALEY · 2020 to 2026
$4.2M
SINGLE-CELL MULTI-OMIC APPROACHES TO MECHANISTICALLY CHARACTERIZE PSYCHIATRIC DISORDER RISK LOCI IN THE HUMAN BRAINR01MH125252 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI LUO, CHONGYUAN · 2021 to 2025
$3.7M
Characterizing the evolutionary architecture of complex disease within and across diverse populationsR01HG012133 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI MANCUSO, NICHOLAS · 2021 to 2025
$3.6M
Elucidating prostate cancer risk mechanisms through large-scale cistrome wide association studiesR01CA262577 · NCI · DANA-FARBER CANCER INST · PI FREEDMAN, MATTHEW L, GIMELBRANT, ALEXANDER · 2022 to 2025
$3.3M
Population-genetic methods for inferring recent histories and targets of selection in the biobank eraR35GM139628 · NIGMS · BROWN UNIVERSITY · PI Sohini Ramachandran · 2021 to 2026
$2.2M
Investigating the co-transcriptional impact of genetic variation on gene regulation and diseaseR01GM130738 · NIGMS · UNIVERSITY OF CHICAGO · PI LI, YANG · 2019 to 2023
$2.2M
NCI NIH HHS R01 CA262577NHGRI NIH HHS R01 HG006399NHGRI NIH HHS R01 HG011067NHGRI NIH HHS R01 HG012133NHGRI NIH HHS U24 HG012090NIA NIH HHS R01 AG057422NIGMS NIH HHS R01 GM130738NIGMS NIH HHS R35 GM139628NIMH NIH HHS R01 MH106842NIMH NIH HHS R01 MH125252
6 · The paper itself

Abstract

Human genetics has emerged as one of the most dynamic areas of biology, with a broadening societal impact. In this review, we discuss recent achievements, ongoing efforts, and future challenges in the field. Advances in technology, statistical methods, and the growing scale of research efforts have all provided many insights into the processes that have given rise to the current patterns of genetic variation. Vast maps of genetic associations with human traits and diseases have allowed characterization of their genetic architecture. Finally, studies of molecular and cellular effects of genetic variants have provided insights into biological processes underlying disease. Many outstanding questions remain, but the field is well poised for groundbreaking discoveries as it increases the use of genetic data to understand both the history of our species and its applications to improve human health.

Indexed as

Human GeneticsGenetic VariationHumansMultifactorial InheritancePhenotype

Identifiers

PMID38428388
PMCPMC10977002

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.