Evidence map›Paper›PMID 35936573›Full record

ArticleNature computational science2021

Balancing efficient analysis and storage of quantitative genomics data with the D4 format and d4tools.

Hao Hou, Brent Pedersen, Aaron Quinlan

Erratum issuedAbstract read
In one paragraph

Article in Nature computational science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

3 authors.

Hao HouDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Brent PedersenDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Aaron QuinlanDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0003-1756-0859

Funding

New algorithms and tools for large-scale genomic analysesR01HG006693 · NHGRI · UNIVERSITY OF VIRGINIA · PI QUINLAN, AARON R · 2012 to 2018
$3.1M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
Scalable detection and interpretation of structural variation in human genomesR01HG010757 · NHGRI · UNIVERSITY OF UTAH · PI QUINLAN, AARON R · 2020 to 2023
$2.8M
Software for exploring all forms of genetic variation in any speciesR01GM124355 · NIGMS · UNIVERSITY OF UTAH · PI QUINLAN, AARON R · 2017 to 2020
$1.8M
NHGRI NIH HHS R01 HG006693NHGRI NIH HHS R01 HG009141NHGRI NIH HHS R01 HG010757NIGMS NIH HHS R01 GM124355
6 · The paper itself

Abstract

Modern DNA sequencing is used as a readout for diverse assays, with the count of aligned sequences (read depth) representing the quantitative signal for each underlying cellular phenomena. Existing data formats for quantitative genomics assays are, however, limited in either the analysis speeds they enable, the disk space they require or both. We have developed the dense depth data dump (D4) format and tool suite, with the goal of balancing improved analysis speeds with file size. The D4 format is adaptive in that it profiles a random sample of aligned sequence depth from the input sequence file to determine an optimal encoding that enables fast data access. We demonstrate that the D4 format offers substantial speed improvements over existing formats for random access, aggregation and summarization, while also achieving better or comparable file sizes. This performance enables scalable downstream analyses that would be otherwise difficult.

Identifiers

PMID35936573
PMCPMC9355464

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Registered trials

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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.