Evidence map›Paper›PMID 29020750›Full record

ArticleGigaScience2017

De novo PacBio long-read and phased avian genome assemblies correct and add to reference genes generated with intermediate and short reads.

Jonas Korlach, Gregory Gedman, Sarah B Kingan, Chen-Shan Chin, Jason T Howard, Jean-Nicolas Audet, Lindsey Cantin, Erich D Jarvis

Open access · goldAbstract read
In one paragraph

Article in GigaScience, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 156 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
156citing papers in PubMed, 1 pooled it
10.4field-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

156 citing papers in PubMed, 1 synthesis or guideline pooled it, 263 citations in OpenAlex.

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96 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

8 authors at 4 institutions in 2 countries.

Jonas KorlachPacific Biosciences, Menlo Park, CA 94025, USA.
Gregory GedmanLaboratory of Neurogenetics of Language, Box 54, The Rockefeller University, New York, NY 10065, USA.
Sarah B KinganPacific Biosciences, Menlo Park, CA 94025, USA.
Chen-Shan ChinPacific Biosciences, Menlo Park, CA 94025, USA.
Jason T HowardLaboratory of Neurogenetics of Language, Box 54, The Rockefeller University, New York, NY 10065, USA.
Jean-Nicolas AudetLaboratory of Neurogenetics of Language, Box 54, The Rockefeller University, New York, NY 10065, USA.
Lindsey CantinLaboratory of Neurogenetics of Language, Box 54, The Rockefeller University, New York, NY 10065, USA.
Erich D JarvisLaboratory of Neurogenetics of Language, Box 54, The Rockefeller University, New York, NY 10065, USA.
Pacific Biosciences (United States) · USRockefeller University · USHoward Hughes Medical Institute · USMcGill University · CA

Funding

Howard Hughes Medical Institute
6 · The paper itself

Abstract

Reference-quality genomes are expected to provide a resource for studying gene structure, function, and evolution. However, often genes of interest are not completely or accurately assembled, leading to unknown errors in analyses or additional cloning efforts for the correct sequences. A promising solution is long-read sequencing. Here we tested PacBio-based long-read sequencing and diploid assembly for potential improvements to the Sanger-based intermediate-read zebra finch reference and Illumina-based short-read Anna's hummingbird reference, 2 vocal learning avian species widely studied in neuroscience and genomics. With DNA of the same individuals used to generate the reference genomes, we generated diploid assemblies with the FALCON-Unzip assembler, resulting in contigs with no gaps in the megabase range, representing 150-fold and 200-fold improvements over the current zebra finch and hummingbird references, respectively. These long-read and phased assemblies corrected and resolved what we discovered to be numerous misassemblies in the references, including missing sequences in gaps, erroneous sequences flanking gaps, base call errors in difficult-to-sequence regions, complex repeat structure errors, and allelic differences between the 2 haplotypes. These improvements were validated by single long-genome and transcriptome reads and resulted for the first time in completely resolved protein-coding genes widely studied in neuroscience and specialized in vocal learning species. These findings demonstrate the impact of long reads, sequencing of previously difficult-to-sequence regions, and phasing of haplotypes on generating the high-quality assemblies necessary for understanding gene structure, function, and evolution.

Indexed as

AnimalsAvian ProteinsBirdsDual Specificity Phosphatase 1Early Growth Response Protein 1FemaleForkhead Transcription FactorsGenomeMaleNerve Tissue ProteinsSequence Analysis, DNAAvian ProteinsDual Specificity Phosphatase 1Early Growth Response Protein 1Forkhead Transcription FactorsNerve Tissue Proteinsbrainde novo genome assemblylanguagelong readsSMRT Sequencing

Identifiers

PMID29020750
PMCPMC5632298
OpenAlexW2747802896

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.