Evidence map›Paper›PMID 30389934›Full record

ArticleNature communications2018

Deciphering highly similar multigene family transcripts from Iso-Seq data with IsoCon.

Kristoffer Sahlin, Marta Tomaszkiewicz, Kateryna D Makova, Paul Medvedev

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
3.8field-weighted citation impact, top 5% 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

32 citing papers in PubMed, 69 citations in OpenAlex.

  1. Nanopore Sequencing for Chikungunya Virus: Principles and Application.Methods in molecular biology (Clifton, N.J.) · 2027
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  8. Locality-sensitive bucketing functions for the edit distance.Algorithms for molecular biology : AMB · 2023
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  13. Nanopore sequencing of PCR products enables multicopy gene family reconstruction.Computational and structural biotechnology journal · 2023
    Article
  14. Review
  15. Article
  16. Identifying Terpenoid Biosynthesis Genes inMolecules (Basel, Switzerland) · 2022
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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

4 authors at 1 institution in 1 country.

Kristoffer SahlinDepartment of Computer Science and Engineering, Pennsylvania State University, University Park, PA, 16802, USA.
Marta TomaszkiewiczDepartment of Biology, Pennsylvania State University, University Park, PA, 16802, USA.
Kateryna D MakovaDepartment of Biology, Pennsylvania State University, University Park, PA, 16802, USA. kmakova@bx.psu.edu.
Paul MedvedevDepartment of Computer Science and Engineering, Pennsylvania State University, University Park, PA, 16802, USA. pashadag@cse.psu.edu.
Pennsylvania State University · US

Funding

Penn State Clinical and Translational Science InstituteUL1TR002014 · NCATS · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI KRASCHNEWSKI, JENNIFER L. · 2016 to 2025
$33.7M
Penn State Clinical and Translational Science InstituteUL1TR000127 · NCATS · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI SINOWAY, LAWRENCE I · 2012 to 2015
$17.1M
NCATS NIH HHS UL1 TR000127NCATS NIH HHS UL1 TR002014NSF | BIO | Division of Biological Infrastructure (DBI) DBI-1356529NSF | BIO | Division of Biological Infrastructure (DBI) DBI-ABI 0965596NSF | Directorate for Computer & Information Science and Engineering | Division of Computing and Communication Foundations (CCF) CCF-1439057NSF | Directorate for Computer & Information Science and Engineering | Division of Information and Intelligent Systems (Information & Intelligent Systems) IIS-1421908NSF | Directorate for Computer & Information Science and Engineering | Division of Information and Intelligent Systems (Information & Intelligent Systems) IIS-1453527U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences (NCATS) UL1TR000127
6 · The paper itself

Abstract

A significant portion of genes in vertebrate genomes belongs to multigene families, with each family containing several gene copies whose presence/absence, as well as isoform structure, can be highly variable across individuals. Existing de novo techniques for assaying the sequences of such highly-similar gene families fall short of reconstructing end-to-end transcripts with nucleotide-level precision or assigning alternatively spliced transcripts to their respective gene copies. We present IsoCon, a high-precision method using long PacBio Iso-Seq reads to tackle this challenge. We apply IsoCon to nine Y chromosome ampliconic gene families and show that it outperforms existing methods on both experimental and simulated data. IsoCon has allowed us to detect an unprecedented number of novel isoforms and has opened the door for unraveling the structure of many multigene families and gaining a deeper understanding of genome evolution and human diseases.

Indexed as

AlgorithmsMultigene FamilyAgedComputer SimulationExonsFragile X Messenger Ribonucleoprotein 1Gene DosageHumansMaleMiddle AgedProtein IsoformsReproducibility of ResultsRNA, MessengerRNA SplicingSequence Analysis, RNATestisFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1Protein IsoformsRNA, Messenger

Identifiers

PMID30389934
PMCPMC6214943
OpenAlexW2899345312

What OpenQuestion holds

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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.