Evidence map›Paper›PMID 20220756›Full record

ArticleNature2010

Transcriptome genetics using second generation sequencing in a Caucasian population.

Stephen B Montgomery, Micha Sammeth, Maria Gutierrez-Arcelus, Radoslaw P Lach, Catherine Ingle, James Nisbett, Roderic Guigo, Emmanouil T Dermitzakis

Open access · greenAbstract read
In one paragraph

Article in Nature, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 524 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
524citing papers in PubMed, 3 pooled it
41.1field-weighted citation impact, top 1% 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

524 citing papers in PubMed, 3 syntheses or guidelines pooled it, 827 citations in OpenAlex.

  1. Pooled it
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  18. Single-cell genomics meets human genetics.Nature reviews. Genetics · 2023
    Review
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464 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

8 authors at 3 institutions in 3 countries.

Stephen B MontgomeryDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, 1211 Switzerland. stephen.montgomery@unige.ch
Micha Sammeth
Maria Gutierrez-Arcelus
Radoslaw P Lach
Catherine Ingle
James Nisbett
Roderic Guigo
Emmanouil T Dermitzakis
Wellcome Sanger Institute · GBPompeu Fabra University · ESUniversity of Geneva · CH

Funding

Wellcome Trust 077046
6 · The paper itself

Abstract

Gene expression is an important phenotype that informs about genetic and environmental effects on cellular state. Many studies have previously identified genetic variants for gene expression phenotypes using custom and commercially available microarrays. Second generation sequencing technologies are now providing unprecedented access to the fine structure of the transcriptome. We have sequenced the mRNA fraction of the transcriptome in 60 extended HapMap individuals of European descent and have combined these data with genetic variants from the HapMap3 project. We have quantified exon abundance based on read depth and have also developed methods to quantify whole transcript abundance. We have found that approximately 10 million reads of sequencing can provide access to the same dynamic range as arrays with better quantification of alternative and highly abundant transcripts. Correlation with SNPs (small nucleotide polymorphisms) leads to a larger discovery of eQTLs (expression quantitative trait loci) than with arrays. We also detect a substantial number of variants that influence the structure of mature transcripts indicating variants responsible for alternative splicing. Finally, measures of allele-specific expression allowed the identification of rare eQTLs and allelic differences in transcript structure. This analysis shows that high throughput sequencing technologies reveal new properties of genetic effects on the transcriptome and allow the exploration of genetic effects in cellular processes.

Indexed as

AllelesAlternative SplicingExonsGene Expression ProfilingHaplotypesHomozygoteHumansPolymorphism, Single NucleotideQuantitative Trait LociRNA, MessengerSequence Analysis, DNAWhite PeopleRNA, Messenger

Identifiers

PMID20220756
PMCPMC3836232
OpenAlexW2065776802

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.