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Variant Calling

Overview of attention for book
Cover of 'Variant Calling'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 1 Data Processing and Germline Variant Calling with the Sentieon Pipeline
  3. Altmetric Badge
    Chapter 2 MuSE: A Novel Approach to Mutation Calling with Sample-Specific Error Modeling
  4. Altmetric Badge
    Chapter 3 Octopus: Genotyping and Haplotyping in Diverse Experimental Designs
  5. Altmetric Badge
    Chapter 4 Accurate Ensemble Prediction of Somatic Mutations with SMuRF2.
  6. Altmetric Badge
    Chapter 5 Detecting Medium and Large Insertions and Deletions with transIndel
  7. Altmetric Badge
    Chapter 6 DECoN: A Detection and Visualization Tool for Exonic Copy Number Variants
  8. Altmetric Badge
    Chapter 7 FACETS: Fraction and Allele-Specific Copy Number Estimates from Tumor Sequencing
  9. Altmetric Badge
    Chapter 8 Meerkat: An Algorithm to Reliably Identify Structural Variations and Predict Their Forming Mechanisms
  10. Altmetric Badge
    Chapter 9 Structural Variant Detection from Long-Read Sequencing Data with cuteSV
  11. Altmetric Badge
    Chapter 10 Identifying Somatic Mitochondrial DNA Mutations
  12. Altmetric Badge
    Chapter 11 Identification, Quantification, and Testing of Alternative Splicing Events from RNA-Seq Data Using SplAdder
  13. Altmetric Badge
    Chapter 12 PipeIT2: Somatic Variant Calling Workflow for Ion Torrent Sequencing Data
  14. Altmetric Badge
    Chapter 13 Variant Calling from RNA-seq Data Using the GATK Joint Genotyping Workflow
  15. Altmetric Badge
    Chapter 14 UMI-Varcal: A Low-Frequency Variant Caller for UMI-Tagged Paired-End Sequencing Data
  16. Altmetric Badge
    Chapter 15 Alignment-Free Genotyping of Known Variations with MALVA
  17. Altmetric Badge
    Chapter 16 Kmer2SNP: Reference-Free Heterozygous SNP Calling Using k-mer Frequency Distributions
  18. Altmetric Badge
    Chapter 17 Somatic Single-Nucleotide Variant Calling from Single-Cell DNA Sequencing Data Using SCAN-SNV.
  19. Altmetric Badge
    Chapter 18 Copy Number Variation Detection by Single-Cell DNA Sequencing with SCOPE
  20. Altmetric Badge
    Chapter 19 Variant Annotation and Functional Prediction: SnpEff
  21. Altmetric Badge
    Chapter 20 Annotating Cancer-Related Variants at Protein–Protein Interface with Structure-PPi
  22. Altmetric Badge
    Chapter 21 Preanalytical Variables and Sample Quality Control for Clinical Variant Analysis
Attention for Chapter 4: Accurate Ensemble Prediction of Somatic Mutations with SMuRF2.
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Chapter title
Accurate Ensemble Prediction of Somatic Mutations with SMuRF2.
Chapter number 4
Book title
Variant Calling
Published in
Methods in molecular biology, January 2022
DOI 10.1007/978-1-0716-2293-3_4
Pubmed ID
Book ISBNs
978-1-07-162292-6, 978-1-07-162293-3
Authors

Huang, Weitai, Sim, Ngak Leng, Skanderup, Anders J, Skanderup, Anders J.

Abstract

Accurate identification of somatic mutations is crucial for discovery and identification of driver mutations in cancer tumors. Here, we describe the updated Somatic Mutation calling method using a Random Forest (SMuRF2), an ensemble method that combines the predictions and auxiliary features from individual mutation callers using supervised machine learning. SMuRF2 provides an efficient workflow to predict both somatic point mutations (SNVs) and small insertions/deletions (indels) in cancer genomes and exomes. We describe the latest method and provide a detailed tutorial for running SMuRF2.

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X Demographics

The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 3 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 3 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 2 67%
Student > Bachelor 1 33%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 67%
Engineering 1 33%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 24 August 2022.
All research outputs
#19,103,731
of 24,323,943 outputs
Outputs from Methods in molecular biology
#7,851
of 13,696 outputs
Outputs of similar age
#358,473
of 509,051 outputs
Outputs of similar age from Methods in molecular biology
#422
of 814 outputs
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So far Altmetric has tracked 13,696 research outputs from this source. They receive a mean Attention Score of 3.5. This one is in the 37th percentile – i.e., 37% of its peers scored the same or lower than it.
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We're also able to compare this research output to 814 others from the same source and published within six weeks on either side of this one. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.