Leveraging known genomic variants to improve detection of variants, especially close-by Indels | Zendy

Nam S. Vo | Zendy; Vinhthuy Phan | Zendy

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Leveraging known genomic variants to improve detection of variants, especially close-by Indels

Author(s) -

Nam S. Vo,

Vinhthuy Phan

Publication year - 2018

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/bty183

Subject(s) - indel , 1000 genomes project , computer science , dbsnp , indel mutation , genome , sensitivity (control systems) , computational biology , reference genome , genomics , data mining , single nucleotide polymorphism , genetics , biology , gene , genotype , electronic engineering , engineering

The detection of genomic variants has great significance in genomics, bioinformatics, biomedical research and its applications. However, despite a lot of effort, Indels and structural variants are still under-characterized compared to SNPs. Current approaches based on next-generation sequencing data usually require large numbers of reads (high coverage) to be able to detect such types of variants accurately. However Indels, especially those close to each other, are still hard to detect accurately.

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