Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

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Background: The widespread use of next-generation sequencing has identified an important role for somatic mosaicism in many diseases. However, detecting low-level mosaic variants from next-generation sequencing data remains challenging. Results: Here, we present a method for Position-Based Variant I...

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Bibliographic Details
Main Authors: Biesecker, L.G (Author), Dudley, J.N (Author), Hawari, M.A (Author), Hong, C.S (Author), Johnston, J.J (Author), Lack, J. (Author), NISC Comparative Sequencing Program (Author), Sapp, J.C (Author), Shiferaw, H. (Author), Shwetar, J. (Author)
Format: Article
Language:English
Published: BioMed Central Ltd 2021
Subjects:
allele
Alleles
cohort analysis
Cohort Studies
Diagnosis
Genes
genetics
high throughput sequencing
High-Throughput Nucleotide Sequencing
human
Humans
Mosaic variants
Next-generation sequencing
nucleotide
Nucleotides
Prediction of mosaic variants
Signal to noise
Signal to noise ratio
Single nucleotides
software
Software
Somatic mosaicism
Somatic overgrowth disorder
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