Evidence map›Paper›PMID 31636330›Full record

ArticleScientific reports2019

Denoising of Aligned Genomic Data.

Irena Fischer-Hwang, Idoia Ochoa, Tsachy Weissman, Mikel Hernaez

Abstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
  2. A survey of k-mer methods and applications in bioinformatics.Computational and structural biotechnology journal · 2024
    Review
  3. Article
  4. Article
  5. Article
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.

Irena Fischer-HwangStanford University, Department of Electrical Engineering, Stanford, 94305, USA. ihwang@stanford.edu.
Idoia OchoaUniversity of Illinois Urbana-Champaign, Department of Electrical and Computer Engineering, Urbana, 61801, USA.
Tsachy WeissmanStanford University, Department of Electrical Engineering, Stanford, 94305, USA.
Mikel HernaezUniversity of Illinois Urbana-Champaign, Carl R. Woese Institute for Genomic Biology, Urbana, 61801, USA. mhernaez@illinois.edu.

Funding

U.S. Department of Health & Human Services | National Institutes of Health (NIH) 5 U01 CA198943-03
6 · The paper itself

Abstract

Noise in genomic sequencing data is known to have effects on various stages of genomic data analysis pipelines. Variant identification is an important step of many of these pipelines, and is increasingly being used in clinical settings to aid medical practices. We propose a denoising method, dubbed SAMDUDE, which operates on aligned genomic data in order to improve variant calling performance. Denoising human data with SAMDUDE resulted in improved variant identification in both individual chromosome as well as whole genome sequencing (WGS) data sets. In the WGS data set, denoising led to identification of almost 2,000 additional true variants, and elimination of over 1,500 erroneously identified variants. In contrast, we found that denoising with other state-of-the-art denoisers significantly worsens variant calling performance. SAMDUDE is written in Python and is freely available at https://github.com/ihwang/SAMDUDE .

Indexed as

AlgorithmsGenomicsSequence AlignmentChromosomes, HumanHumans

Identifiers

PMID31636330
PMCPMC6803637

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.