Evidence map›Paper›PMID 31797624›Full record

ArticlePacific Symposium on Biocomputing. Pacific Symposium on Biocomputing2020

Hadoop and PySpark for reproducibility and scalability of genomic sequencing studies.

Nicholas R Wheeler, Penelope Benchek, Brian W Kunkle, Kara L Hamilton-Nelson, Mike Warfe, Jeremy R Fondran, Jonathan L Haines, William S Bush

Abstract read
In one paragraph

Article in Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. NIAGADS Alzheimer's GenomicsDB: A resource for exploring Alzheimer's disease genetic and genomic knowledge.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
    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

8 authors.

Nicholas R WheelerCleveland Institute for Computational Biology, Department of Population and Quantitative Health Sciences, Case Western Reserve University, Wolstein Research Building, 2103 Cornell Road, Cleveland OH 44106, USA, nrw16@case.edu.
Penelope Benchek
Brian W Kunkle
Kara L Hamilton-Nelson
Mike Warfe
Jeremy R Fondran
Jonathan L Haines
William S Bush

Funding

Genome Center for Alzheimer's Disease (GCAD)U54AG052427 · NIA · UNIVERSITY OF PENNSYLVANIA · PI WANG, LI-SAN · 2016 to 2025
$32.8M
The Alzheimer Disease Sequence Analysis CollaborativeU01AG058654 · NIA · CASE WESTERN RESERVE UNIVERSITY · PI BUSH, WILLIAM S, FARRER, LINDSAY A. · 2018 to 2022
$14.6M
Genomic Characterization of Alzheimer's Disease Risk in the Puerto Rican PopulationRF1AG054074 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BEECHAM, GARY WAYNE, PERICAK-VANCE, MARGARET A. · 2016 to 2018
$8.0M
Replication and Extension of ADSP Discoveries in African-AmericansU01AG052410 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BEECHAM, GARY WAYNE, BYRD, GOLDIE S. · 2016 to 2020
$5.2M
NIA NIH HHS RF1 AG054074NIA NIH HHS U01 AG052410NIA NIH HHS U01 AG058654NIA NIH HHS U54 AG052427
6 · The paper itself

Abstract

Modern genomic studies are rapidly growing in scale, and the analytical approaches used to analyze genomic data are increasing in complexity. Genomic data management poses logistic and computational challenges, and analyses are increasingly reliant on genomic annotation resources that create their own data management and versioning issues. As a result, genomic datasets are increasingly handled in ways that limit the rigor and reproducibility of many analyses. In this work, we examine the use of the Spark infrastructure for the management, access, and analysis of genomic data in comparison to traditional genomic workflows on typical cluster environments. We validate the framework by reproducing previously published results from the Alzheimer's Disease Sequencing Project. Using the framework and analyses designed using Jupyter notebooks, Spark provides improved workflows, reduces user-driven data partitioning, and enhances the portability and reproducibility of distributed analyses required for large-scale genomic studies.

Indexed as

Computational BiologyGenomicsHigh-Throughput Nucleotide SequencingBase SequenceChromosome MappingDiagnostic Tests, RoutineHumansReproducibility of ResultsSequence Analysis, DNASoftwareWorkflow

Identifiers

PMID31797624
PMCPMC6956992

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.