Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate

Abstract excerpt

<h4>Background</h4> Identification of impactful genetic variants from DNA sequencing data relies on increasingly detailed filtering strategies to isolate the small subset of variants that are more likely to underlie a disease phenotype. Datasets reflecting population allele frequencies of different types of variants have been demonstrated as powerful filtering tools, especially in the context of rare disease anal...

Topics

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• Algorithms
• Base Sequence
• Exome
• Genome, Human
• High-Throughput Nucleotide Sequencing
• Polymorphism, Single Nucleotide
• Software
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

726230b6-b61b-5dba-a8ff-af2c3ef49085

DOI

10.1101/2022.06.09.495527