REscan: inferring repeat expansions and structural variation in paired-end short read sequencing data | Zendy

Russell L. McLaughlin | Zendy

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REscan: inferring repeat expansions and structural variation in paired-end short read sequencing data

Author(s) -

Russell L. McLaughlin

Publication year - 2020

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/btaa753

Subject(s) - statistic , trinucleotide repeat expansion , locus (genetics) , whole genome sequencing , sequence (biology) , c9orf72 , population , biology , genome , computational biology , source code , computer science , genetics , statistics , mathematics , medicine , allele , gene , environmental health , operating system

Repeat expansions are an important class of genetic variation in neurological diseases. However, the identification of novel repeat expansions using conventional sequencing methods is a challenge due to their typical lengths relative to short sequence reads and difficulty in producing accurate and unique alignments for repetitive sequence. However, this latter property can be harnessed in paired-end sequencing data to infer the possible locations of repeat expansions and other structural variation.

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