Evidence map›Paper›PMID 34888494›Full record

ArticleJournal of translational genetics and genomics2021

Duo Shared Genomic Segment analysis identifies a genome-wide significant risk locus at 18q21.33 in myeloma pedigrees.

Rosalie Griffin Waller, Michael J Madsen, John Gardner, Douglas W Sborov, Nicola J Camp

Open access · diamondAbstract read
In one paragraph

Article in Journal of translational genetics and genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 30% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Article
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

5 authors at 2 institutions in 1 country.

Rosalie Griffin WallerHuntsman Cancer Institute, Salt Lake City, UT 84112, USA.
Michael J MadsenHuntsman Cancer Institute, Salt Lake City, UT 84112, USA.
John GardnerHuntsman Cancer Institute, Salt Lake City, UT 84112, USA.
Douglas W SborovHuntsman Cancer Institute, Salt Lake City, UT 84112, USA.
Nicola J CampHuntsman Cancer Institute, Salt Lake City, UT 84112, USA.
Huntsman Cancer Institute · USUniversity of Utah · US

Funding

UTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Jared P Rutter · 1986 to 2026
$72.6M
Genetics of Common Cancers: Discovery to ImplementationK00CA234943 · NCI · MAYO CLINIC ROCHESTER · PI GRIFFIN, ROSALIE · 2020 to 2023
$391k
Genetics of Common Cancers: Discovery to ImplementationF99CA234943 · NCI · UNIVERSITY OF UTAH · PI GRIFFIN, ROSALIE · 2018 to 2019
$69k
NCI NIH HHS F99 CA234943NCI NIH HHS HHSN261201800016CNCI NIH HHS HHSN261201800016INCI NIH HHS K00 CA234943NCI NIH HHS P30 CA042014
6 · The paper itself

Abstract

aimHigh-risk pedigrees (

methodsDuo-SGS is a procedure to combine single-pedigree SGS evidence. It implements statistically rigorous duo-pedigree thresholding to determine genome-wide significance levels that account for optimization across pedigree pairs. Single-pedigree SGS identifies optimal segments shared by case subsets at each locus across the genome, with nominal significance assessed empirically. Duo-SGS combines the statistical evidence for SGS segments at the same genomic location in two pedigrees using Fisher's method. One pedigree is paired with all others and the best duo-SGS evidence at each locus across the genome is established. Genome-wide significance thresholds are determined through distribution-fitting and the Theory of Large Deviations. We applied the duoSGS strategy to eleven extended, myeloma HRPs.

resultsWe identified one genome-wide significant region at 18q21.33 (0.85 Mb,

conclusionOur results provide novel risk loci with segregating evidence from multiple HRPs and offer compelling targets and specific segment carriers to focus a future search for functional variants involved in inherited risk formyeloma.

Indexed as

disease susceptibilitygene mappingHigh-risk pedigreesmultiple myeloma

Identifiers

PMID34888494
PMCPMC8654160
OpenAlexW3166871264

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.