Evidence map›Paper›PMID 32719484›Full record

ArticleNature medicine2020

Population genetic screening efficiently identifies carriers of autosomal dominant diseases.

J J Grzymski, G Elhanan, J A Morales Rosado, E Smith, K A Schlauch, R Read, C Rowan, N Slotnick, S Dabe, W J Metcalf and 13 more

Abstract read
PubMed Publisher
In one paragraph

Article in Nature medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 139 papers.

0numbers the graph read from it
0cells of the map it votes in
139citing 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

139 citing papers in PubMed.

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79 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

23 authors.

J J GrzymskiRenown Health, Reno, NV, USA. joe.grzymski@dri.edu.ORCID http://orcid.org/0000-0003-2646-8958
G ElhananDesert Research Institute, Reno, NV, USA.
J A Morales RosadoCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-7710-2211
E SmithDesert Research Institute, Reno, NV, USA.
K A SchlauchDesert Research Institute, Reno, NV, USA.ORCID http://orcid.org/0000-0001-6916-8571
R ReadDesert Research Institute, Reno, NV, USA.ORCID http://orcid.org/0000-0002-6967-5634
C RowanRenown Health, Reno, NV, USA.
N SlotnickRenown Health, Reno, NV, USA.
S DabeDesert Research Institute, Reno, NV, USA.ORCID http://orcid.org/0000-0002-2494-962X
W J MetcalfDesert Research Institute, Reno, NV, USA.
B LippDesert Research Institute, Reno, NV, USA.
H ReedDesert Research Institute, Reno, NV, USA.
L SharmaHelix, San Mateo, CA, USA.
E LevinHelix, San Mateo, CA, USA.
J KaoHelix, San Mateo, CA, USA.
M RashkinHelix, San Mateo, CA, USA.ORCID http://orcid.org/0000-0002-5413-3533
J BowesHelix, San Mateo, CA, USA.
K DunawayHelix, San Mateo, CA, USA.
A SlonimRenown Health, Reno, NV, USA.
N WashingtonHelix, San Mateo, CA, USA.ORCID http://orcid.org/0000-0001-8936-9143
M FerberCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
A BolzeHelix, San Mateo, CA, USA.
J T LuHelix, San Mateo, CA, USA. james.lu@helix.com.ORCID http://orcid.org/0000-0002-1873-7049

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Three inherited autosomal dominant conditions-BRCA-related hereditary breast and ovarian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH)-have been termed the Centers for Disease Control and Prevention Tier 1 (CDCT1) genetic conditions, for which early identification and intervention have a meaningful potential for clinical actionability and a positive impact on public health

Indexed as

Genetics, PopulationGenetic TestingAdolescentAdultAgedColorectal Neoplasms, Hereditary NonpolyposisFemaleGenetic Carrier ScreeningHereditary Breast and Ovarian Cancer SyndromeHeterozygoteHumansHyperlipoproteinemia Type IIMiddle Aged

Identifiers

What OpenQuestion holds

Textmetadata
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.