Evidence map›Paper›PMID 31844178›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.

Tracy Brandt, Laura M Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Hong Cui, Hua Gao, Lora J H Bean, Arunkanth Ankala, Daniela Del Gaudio and 6 more

Abstract readPublished Erratum
PubMed Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Next-Generation Sequencing Applications for Inherited Retinal Diseases.International journal of molecular sciences · 2021
    Review
  2. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors.

Tracy BrandtGeneDx, Gaithersburg, MD, USA. tbrandt@genedx.com.
Laura M SackGeneDx, Gaithersburg, MD, USA.
Dolores ArjonaGeneDx, Gaithersburg, MD, USA.
Duanjun TanGeneDx, Gaithersburg, MD, USA.
Hui MeiGeneDx, Gaithersburg, MD, USA.
Hong CuiGeneDx, Gaithersburg, MD, USA.
Hua GaoGeneDx, Gaithersburg, MD, USA.
Lora J H BeanDepartment of Human Genetics, Emory University, Atlanta, GA, USA.
Arunkanth AnkalaDepartment of Human Genetics, Emory University, Atlanta, GA, USA.
Daniela Del GaudioDepartment of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, IL, USA.
Amy Knight JohnsonDepartment of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, IL, USA.
Lisa M VincentGeneDx, Gaithersburg, MD, USA.
Caitlin ReaveyGeneDx, Gaithersburg, MD, USA.
Amy LaiGeneDx, Gaithersburg, MD, USA.
Gabriele RichardGeneDx, Gaithersburg, MD, USA.
Jeanne M MeckGeneDx, Gaithersburg, MD, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Identifiers

PMID31844178

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.