Evidence map›Paper›PMID 23681062›Full record

ReviewNature reviews. Genetics2013

Molecular genetic testing and the future of clinical genomics.

Sara Huston Katsanis, Nicholas Katsanis

Abstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 195 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
195citing papers in PubMed, 4 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

195 citing papers in PubMed, 4 syntheses or guidelines pooled it.

  1. Diagnostic accuracy of next-generation sequencing (NGS) for identifying actionable mutations in advanced non-small cell lung cancer: Systematic Review and Meta-Analysis.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
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135 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

2 authors.

Sara Huston KatsanisDuke Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, North Carolina 27710, USA. sara.katsanis@duke.edu
Nicholas Katsanis

Funding

Molecular Genetics of BBSR01HD042601 · NICHD · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI DAVIS, ERICA ELLEN · 2003 to 2023
$8.2M
Genetic and Functional Studies of Human Ciliary SyndromesR01DK072301 · NIDDK · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI DAVIS, ERICA ELLEN · 2005 to 2022
$7.2M
Research Project 3P50DK096415 · NIDDK · DUKE UNIVERSITY · PI HAUSER, MICHAEL A · 2012 to 2016
$4.2M
The Role of Basa Bodies in Wnt SignalingR01DK075972 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI KATSANIS, NICHOLAS · 2007 to 2015
$3.1M
NICHD NIH HHS R01 HD042601NIDDK NIH HHS P50 DK096415NIDDK NIH HHS R01 DK072301NIDDK NIH HHS R01 DK075972
6 · The paper itself

Abstract

Genomic technologies are reaching the point of being able to detect genetic variation in patients at high accuracy and reduced cost, offering the promise of fundamentally altering medicine. Still, although scientists and policy advisers grapple with how to interpret and how to handle the onslaught and ambiguity of genome-wide data, established and well-validated molecular technologies continue to have an important role, especially in regions of the world that have more limited access to next-generation sequencing capabilities. Here we review the range of methods currently available in a clinical setting as well as emerging approaches in clinical molecular diagnostics. In parallel, we outline implementation challenges that will be necessary to address to ensure the future of genetic medicine.

Indexed as

AnimalsEvaluation Studies as TopicGenetic TestingGenome-Wide Association StudyGenomicsHumansKaryotypingMolecular Diagnostic TechniquesOligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotideSequence Analysis, DNAUnited States

Identifiers

PMID23681062
PMCPMC4461364

What OpenQuestion holds

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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.