Evidence map›Paper›PMID 33257863›Full record

ArticleNature biotechnology2021

Targeted nanopore sequencing by real-time mapping of raw electrical signal with UNCALLED.

Sam Kovaka, Yunfan Fan, Bohan Ni, Winston Timp, Michael C Schatz

Open access · greenAbstract read
In one paragraph

Article in Nature biotechnology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 158 papers.

0numbers the graph read from it
0cells of the map it votes in
158citing papers in PubMed
16.0field-weighted citation impact, top 1% of its field
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

158 citing papers in PubMed, 276 citations in OpenAlex.

  1. Review
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  7. Movi 2: fast and space-efficient queries on pangenomes.Bioinformatics (Oxford, England) · 2026
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98 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

Sam KovakaDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA. skovaka1@jhu.edu.ORCID http://orcid.org/0000-0002-4835-8023
Yunfan FanDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
Bohan NiDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
Winston TimpDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-2083-6027
Michael C SchatzDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
Johns Hopkins University · US

Funding

Nanopore based profiling of epigenetic stateR01HG009190 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI TIMP, WINSTON GEORGE · 2017 to 2024
$4.8M
NHGRI NIH HHS R01 HG009190
6 · The paper itself

Abstract

Conventional targeted sequencing methods eliminate many of the benefits of nanopore sequencing, such as the ability to accurately detect structural variants or epigenetic modifications. The ReadUntil method allows nanopore devices to selectively eject reads from pores in real time, which could enable purely computational targeted sequencing. However, this requires rapid identification of on-target reads while most mapping methods require computationally intensive basecalling. We present UNCALLED ( https://github.com/skovaka/UNCALLED ), an open source mapper that rapidly matches streaming of nanopore current signals to a reference sequence. UNCALLED probabilistically considers k-mers that could be represented by the signal and then prunes the candidates based on the reference encoded within a Ferragina-Manzini index. We used UNCALLED to deplete sequencing of known bacterial genomes within a metagenomics community, enriching the remaining species 4.46-fold. UNCALLED also enriched 148 human genes associated with hereditary cancers to 29.6× coverage using one MinION flowcell, enabling accurate detection of single-nucleotide polymorphisms, insertions and deletions, structural variants and methylation in these genes.

Indexed as

AlgorithmsBacteriaComputational BiologyDNA MethylationGenetic Predisposition to DiseaseGenetic VariationGenome, BacterialGenome, HumanHigh-Throughput Nucleotide SequencingHumansNanopore SequencingNeoplasmsSequence Analysis, DNASoftware

Identifiers

PMID33257863
PMCPMC8567335
OpenAlexW3109164186

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.