Evidence map›Paper›PMID 28193154›Full record

ReviewBMC genetics2017

Opportunities and challenges of whole-genome and -exome sequencing.

Britt-Sabina Petersen, Broder Fredrich, Marc P Hoeppner, David Ellinghaus, Andre Franke

Abstract readReview
In one paragraph

Review in BMC genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
108citing papers in PubMed, 1 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

108 citing papers in PubMed, 1 synthesis or guideline pooled it.

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  8. A novel heterozygous pathogenic variation in theTranslational pediatrics · 2026
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  13. [Application ofZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025
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48 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

5 authors.

Britt-Sabina PetersenInstitute of Clinical Molecular Biology, Kiel University, Kiel, Germany.
Broder FredrichInstitute of Clinical Molecular Biology, Kiel University, Kiel, Germany.
Marc P HoeppnerInstitute of Clinical Molecular Biology, Kiel University, Kiel, Germany.
David EllinghausInstitute of Clinical Molecular Biology, Kiel University, Kiel, Germany.
Andre FrankeInstitute of Clinical Molecular Biology, Kiel University, Kiel, Germany. a.franke@mucosa.de.ORCID 0000-0003-1530-5811

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recent advances in the development of sequencing technologies provide researchers with unprecedented possibilities for genetic analyses. In this review, we will discuss the history of genetic studies and the progress driven by next-generation sequencing (NGS), using complex inflammatory bowel diseases as an example. We focus on the opportunities, but also challenges that researchers are facing when working with NGS data to unravel the genetic causes underlying diseases.

Indexed as

DiseaseExomeGenomicsHigh-Throughput Nucleotide SequencingHumansSequence Analysis, DNAComplex diseasesInflammatory bowel diseasesNext-generation sequencingNGSVariant priorizationVariants of unknown significance (VUS)WESWGSWhole-exome sequencingWhole-genome sequencing

Identifiers

PMID28193154
PMCPMC5307692

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.