Evidence map›Paper›PMID 31435239›Full record

ReviewJournal of Taibah University Medical Sciences2017

A RaDiCAL gene hunt.

Mihaela Pupavac, Ma'n H Zawati, David S Rosenblatt

Abstract readReview
In one paragraph

Review in Journal of Taibah University Medical Sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Mihaela PupavacDepartment of Human Genetics, McGill University, Montreal, Québec, Canada.
Ma'n H ZawatiCentre of Genomics and Policy, McGill University, Montreal, Québec, Canada.
David S RosenblattDepartment of Human Genetics, McGill University, Montreal, Québec, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In the past several years, rare disease consortia have embarked on the discovery of disease-causing genes for Mendelian diseases using next generation sequencing approaches. Despite the success of these large-scale initiatives, many diseases still have no identified genetic cause. The Rare Disease Collaboration for Autosomal Loci (RaDiCAL) studies the rarest diseases, where occasionally only a single proband is available to identify putative disease-causing genes. This article reviews how "RaDiCAL" addressed some of the challenges in generating informed consent documents for international participants and considers the emerging topic of the "right not to know" in study design.

Indexed as

GenesMendelian diseasesProbandRaDiCALRight not to know

Identifiers

PMID31435239
PMCPMC6694981

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.