Evidence map›Paper›PMID 32321997›Full record

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

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

Marilyn M Li, Elizabeth Chao, Edward D Esplin, David T Miller, Katherine L Nathanson, Sharon E Plon, Maren T Scheuner, Douglas R Stewart, ACMG Professional Practice and Guidelines Committee

Abstract read
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 59 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 2 pooled it
–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

59 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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  10. Molecular approach to cytopenia and bone marrow failure.Hematology. American Society of Hematology. Education Program · 2025
    Review
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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

9 authors.

Marilyn M LiChildren's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Elizabeth ChaoDivision of Genetic and Genomic Medicine, University of California, Irvine, School of Medicine, Irvine, CA, USA.
Edward D EsplinInvitae, San Francisco, CA, USA.
David T MillerDivision of Genetics and Genomics, Boston Children's Hospital, Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
Katherine L NathansonDepartment of Medicine, Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Sharon E PlonBaylor College of Medicine, Houston, TX, USA.
Maren T ScheunerDivision of Medical Genetics, Department of Pediatrics and Division of Hematology-Oncology, Department of Medicine, UCSF School of Medicine, San Francisco, CA, USA.
Douglas R StewartClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
ACMG Professional Practice and Guidelines Committee

Funding

Clinical Genetic Studies of Familial and Hereditary Cancer SyndromesZIACP010144 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$111.8M
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genetics, MedicalNeoplasmsGenetic TestingGenome, HumanGenomicsGerm CellsHumansUnited Statesnext-generation sequencing (NGS)presumed germline pathogenic variants (PGPV)secondary findingssomatic variantstumor testing

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.