Evidence map›Paper›PMID 24599324›Full record

ArticlePloS one2014

MOSAIK: a hash-based algorithm for accurate next-generation sequencing short-read mapping.

Wan-Ping Lee, Michael P Stromberg, Alistair Ward, Chip Stewart, Erik P Garrison, Gabor T Marth

Abstract read
In one paragraph

Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 160 papers.

0numbers the graph read from it
0cells of the map it votes in
160citing papers in PubMed
–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

160 citing papers in PubMed.

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100 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

6 authors.

Wan-Ping LeeDepartment of Biology, Boston College, Chestnut Hill, Massachusetts, United States of America.
Michael P StrombergDepartment of Biology, Boston College, Chestnut Hill, Massachusetts, United States of America.
Alistair WardDepartment of Biology, Boston College, Chestnut Hill, Massachusetts, United States of America.
Chip StewartDepartment of Biology, Boston College, Chestnut Hill, Massachusetts, United States of America; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America.
Erik P GarrisonDepartment of Biology, Boston College, Chestnut Hill, Massachusetts, United States of America.
Gabor T MarthDepartment of Biology, Boston College, Chestnut Hill, Massachusetts, United States of America.

Funding

Robust Software Tools for Variant Identification and Functional AssessmentU01HG006513 · NHGRI · UNIVERSITY OF UTAH · PI ABECASIS, GONCALO, MARTH, GABOR T · 2012 to 2015
$4.2M
Software Tools for Next-Generation Sequencer DataR01HG004719 · NHGRI · BOSTON COLLEGE · PI MARTH, GABOR T · 2008 to 2011
$2.5M
NHGRI NIH HHS 3U01HG006513-02S1NHGRI NIH HHS 5R01HG004719-04NHGRI NIH HHS R01 HG004719NHGRI NIH HHS U01 HG006513
6 · The paper itself

Abstract

MOSAIK is a stable, sensitive and open-source program for mapping second and third-generation sequencing reads to a reference genome. Uniquely among current mapping tools, MOSAIK can align reads generated by all the major sequencing technologies, including Illumina, Applied Biosystems SOLiD, Roche 454, Ion Torrent and Pacific BioSciences SMRT. Indeed, MOSAIK was the only aligner to provide consistent mappings for all the generated data (sequencing technologies, low-coverage and exome) in the 1000 Genomes Project. To provide highly accurate alignments, MOSAIK employs a hash clustering strategy coupled with the Smith-Waterman algorithm. This method is well-suited to capture mismatches as well as short insertions and deletions. To support the growing interest in larger structural variant (SV) discovery, MOSAIK provides explicit support for handling known-sequence SVs, e.g. mobile element insertions (MEIs) as well as generating outputs tailored to aid in SV discovery. All variant discovery benefits from an accurate description of the read placement confidence. To this end, MOSAIK uses a neural-network based training scheme to provide well-calibrated mapping quality scores, demonstrated by a correlation coefficient between MOSAIK assigned and actual mapping qualities greater than 0.98. In order to ensure that studies of any genome are supported, a training pipeline is provided to ensure optimal mapping quality scores for the genome under investigation. MOSAIK is multi-threaded, open source, and incorporated into our command and pipeline launcher system GKNO (http://gkno.me).

Indexed as

Sequence Analysis, DNASoftwareAlgorithmsChromosome MappingEscherichia coliHigh-Throughput Nucleotide SequencingHumansINDEL MutationInterspersed Repetitive SequencesNeural Networks, ComputerPolymorphism, Single NucleotideROC Curve

Identifiers

PMID24599324
PMCPMC3944147

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.