Evidence map›Paper›PMID 35088925›Full record

ArticleHuman mutation2022

Variant interpretation: UCSC Genome Browser Recommended Track Sets.

Anna Benet-Pagès, Kate R Rosenbloom, Luis R Nassar, Christopher M Lee, Brian J Raney, Hiram Clawson, Daniel Schmelter, Jonathan Casper, Jairo Navarro Gonzalez, Gerardo Perez and 5 more

Abstract read
In one paragraph

Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Reclassification of VUS inGenetics in medicine open · 2025
    Article
  3. Article
  4. Article
  5. Article
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

15 authors.

Anna Benet-PagèsGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Kate R RosenbloomGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Luis R NassarGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Christopher M LeeGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Brian J RaneyGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Hiram ClawsonGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Daniel SchmelterGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Jonathan CasperGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Jairo Navarro GonzalezGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Gerardo PerezGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Brian T LeeGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Ann S ZweigGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
W James KentGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Maximillian HaeusslerGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Robert M KuhnGenomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.

Funding

The UCSC Genome BrowserU41HG002371 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI KENT, WILLIAM JAMES · 2012 to 2021
$36.6M
The WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ira M Hall, Heng Li · 2019 to 2026
$24.9M
A Cellular Resolution Census of the Developing Human BrainU01MH114825 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI HUANG, ERIC J, KRIEGSTEIN, ARNOLD · 2017 to 2021
$6.7M
Evolution of new regulatory networks via genetic arms races between KRAB zinc finger proteins and retrotransposonsR01HG010329 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI SALAMA, SOFIE REDA · 2019 to 2022
$2.7M
NHGRI NIH HHS R01 HG010329NHGRI NIH HHS U41 HG002371NHGRI NIH HHS U41 HG010972NIMH NIH HHS U01 MH114825
6 · The paper itself

Abstract

The UCSC Genome Browser has been an important tool for genomics and clinical genetics since the sequence of the human genome was first released in 2000. As it has grown in scope to display more types of data it has also grown more complicated. The data, which are dispersed at many locations worldwide, are collected into one view on the Browser, where the graphical interface presents the data in one location. This supports the expertise of the researcher to interpret variants in the genome. Because the analysis of single nucleotide variants and copy number variants require interpretation of data at very different genomic scales, different data resources are required. We present here several Recommended Track Sets designed to facilitate the interpretation of variants in the clinic, offering quick access to datasets relevant to the appropriate scale.

Indexed as

Databases, GeneticSoftwareDNA Copy Number VariationsGenome, HumanGenomicsHumansInternetclinical geneticsCNVcopy number variantdatabasegenome browserrecommended track setsingle nucleotide variantSNVvariant interpretation

Identifiers

PMID35088925
PMCPMC9288501

What OpenQuestion holds

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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.