Evidence map›Paper›PMID 30138581›Full record

ArticleCell systems2018

Statistical Binning for Barcoded Reads Improves Downstream Analyses.

Ariya Shajii, Ibrahim Numanagić, Christopher Whelan, Bonnie Berger

Abstract read
In one paragraph

Article in Cell systems, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing 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

14 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Bioinformatics advances · 2022
    Article
  9. Article
  10. Article
  11. Article
  12. Structural variation in the sequencing era.Nature reviews. Genetics · 2020
    Review
  13. Seq: A High-Performance Language for Bioinformatics.Proceedings of the ACM on programming languages · 2019
    Article
  14. 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.

Ariya ShajiiComputer Science and AI Lab, Massachusetts Institute of Technology, Cambridge, MA, USA.
Ibrahim NumanagićComputer Science and AI Lab, Massachusetts Institute of Technology, Cambridge, MA, USA; Department of Mathematics, Massachusetts Institute of Technology, Cambridge, MA, USA.
Christopher WhelanData Sciences Platform, Broad Institute, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Bonnie BergerComputer Science and AI Lab, Massachusetts Institute of Technology, Cambridge, MA, USA; Department of Mathematics, Massachusetts Institute of Technology, Cambridge, MA, USA. Electronic address: bab@mit.edu.

Funding

Compressive genomics for large omics data sets: Algorithms applications & toolsR01GM108348 · NIGMS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI BERGER, BONNIE · 2013 to 2019
$2.1M
NIGMS NIH HHS R01 GM108348
6 · The paper itself

Abstract

Sequencing technologies are capturing longer-range genomic information at lower error rates, enabling alignment to genomic regions that are inaccessible with short reads. However, many methods are unable to align reads to much of the genome, recognized as important in disease, and thus report erroneous results in downstream analyses. We introduce EMA, a novel two-tiered statistical binning model for barcoded read alignment, that first probabilistically maps reads to potentially multiple "read clouds" and then within clouds by newly exploiting the non-uniform read densities characteristic of barcoded read sequencing. EMA substantially improves downstream accuracy over existing methods, including phasing and genotyping on 10x data, with fewer false variant calls in nearly half the time. EMA effectively resolves particularly challenging alignments in genomic regions that contain nearby homologous elements, uncovering variants in the pharmacogenomically important CYP2D region, and clinically important genes C4 (schizophrenia) and AMY1A (obesity), which go undetected by existing methods. Our work provides a framework for future generation sequencing.

Indexed as

AlgorithmsCytochrome P-450 CYP2D6Cytochrome P-450 Enzyme SystemGenetic VariationGenomicsGenotyping TechniquesHumansProbabilitySalivary alpha-AmylasesSequence Analysis, DNASoftwareAMY1A protein, humanCYP2D7 protein, humanCytochrome P-450 CYP2D6Cytochrome P-450 Enzyme SystemSalivary alpha-Amylasesbarcoded short-readslinked-readsread mappingthird-generation sequencing

Identifiers

PMID30138581
PMCPMC6214366

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.