Evidence map›Paper›PMID 31647408›Full record

ArticleeLife2019

Rare variants contribute disproportionately to quantitative trait variation in yeast.

Joshua S Bloom, James Boocock, Sebastian Treusch, Meru J Sadhu, Laura Day, Holly Oates-Barker, Leonid Kruglyak

Abstract read
In one paragraph

Article in eLife, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.

0numbers the graph read from it
0cells of the map it votes in
55citing 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

55 citing papers in PubMed.

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  18. Dissecting quantitative trait nucleotides by saturation genome editing.bioRxiv : the preprint server for biology · 2024
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors.

Joshua S BloomDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, United States.ORCID 0000-0002-7241-1648
James BoocockDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, United States.
Sebastian TreuschDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, United States.
Meru J SadhuDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, United States.
Laura DayDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, United States.
Holly Oates-BarkerDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, United States.
Leonid KruglyakDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, United States.ORCID 0000-0002-8065-3057

Funding

Toward comprehensive genetic dissection of complex traits in yeastR01GM102308 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI LEONID KRUGLYAK · 2012 to 2026
$3.3M
NIGMS NIH HHS R01 GM102308NIH HHS R01GM102308
6 · The paper itself

Abstract

How variants with different frequencies contribute to trait variation is a central question in genetics. We use a unique model system to disentangle the contributions of common and rare variants to quantitative traits. We generated ~14,000 progeny from crosses among 16 diverse yeast strains and identified thousands of quantitative trait loci (QTLs) for 38 traits. We combined our results with sequencing data for 1011 yeast isolates to show that rare variants make a disproportionate contribution to trait variation. Evolutionary analyses revealed that this contribution is driven by rare variants that arose recently, and that negative selection has shaped the relationship between variant frequency and effect size. We leveraged the structure of the crosses to resolve hundreds of QTLs to single genes. These results refine our understanding of trait variation at the population level and suggest that studies of rare variants are a fertile ground for discovery of genetic effects.

Indexed as

Genetic VariationGenome, FungalQuantitative Trait, HeritableQuantitative Trait LociBiological EvolutionChromosome MappingCrosses, GeneticHigh-Throughput Nucleotide SequencingPhenotypePhylogenySaccharomyces cerevisiaeSelection, Geneticcomplex traitsgenetic architecturegeneticsgenomicsQTLrare variantsS. cerevisiae

Identifiers

PMID31647408
PMCPMC6892613

What OpenQuestion holds

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LicenceCC BY
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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.