Evidence map›Paper›PMID 35629091›Full record

ArticleJournal of personalized medicine2022

Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.

Ari Silver, Gabriel A Lazarin, Maxwell Silver, Meghan Miller, Michael Jansen, Christine Wechsberg, Erin Dekanek, Stav Grossfeld, Tim Herpel, Dinura Gunatilake and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of personalized medicine, 2022. 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
0.2field-weighted citation impact, top 41% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

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

12 authors.

Ari SilverPhosphorus, Inc., 1140 Broadway, 12th Floor, New York, NY 10001, USA.ORCID 0000-0003-3570-6399
Gabriel A LazarinPhosphorus, Inc., 1140 Broadway, 12th Floor, New York, NY 10001, USA.
Maxwell SilverPhosphorus, Inc., 1140 Broadway, 12th Floor, New York, NY 10001, USA.
Meghan MillerPhosphorus, Inc., 1140 Broadway, 12th Floor, New York, NY 10001, USA.
Michael JansenPhosphorus, Inc., 1140 Broadway, 12th Floor, New York, NY 10001, USA.
Christine WechsbergPhosphorus, Inc., 1140 Broadway, 12th Floor, New York, NY 10001, USA.
Erin DekanekPhosphorus, Inc., 1140 Broadway, 12th Floor, New York, NY 10001, USA.
Stav GrossfeldPhosphorus, Inc., 1140 Broadway, 12th Floor, New York, NY 10001, USA.
Tim HerpelPhosphorus, Inc., 1140 Broadway, 12th Floor, New York, NY 10001, USA.
Dinura GunatilakePhosphorus, Inc., 1140 Broadway, 12th Floor, New York, NY 10001, USA.
Alexander BisignanoPhosphorus, Inc., 1140 Broadway, 12th Floor, New York, NY 10001, USA.
Malgorzata JaremkoPhosphorus, Inc., 1140 Broadway, 12th Floor, New York, NY 10001, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

DNA-based screening in individuals without known risk factors potentially identifies those who may benefit from genetic counseling, early medical interventions, and/or avoidance of late or missed diagnoses. While not currently in widespread usage, technological advances in genetic analysis overcome barriers to access by enabling less labor-intensive and more cost-efficient means to discover variants of clinical importance. This study describes the technical validation of a 430-gene next-generation sequencing based assay, GeneCompass

Indexed as

bioinformaticsgeneticsgenomic screeningnext generation sequencing (NGS)population health

Identifiers

PMID35629091
PMCPMC9147210
OpenAlexW4226189406

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.