Maoz Moss TY on Muck Rack

Maoz Moss TY

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Articles

The impact of FASTQ and alignment read order on structural variant calling from long-read sequencing data

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By Maoz Moss TY, De Vargas C, Conrad DF
| PeerJ
Our results demonstrate the importance of considering the impact of FASTQ read order on SV calling and further highlight the need to consider how routine intermediate methods, such as BAM sorting, can affect the results of a bioinformatics analysis. While the FASTQ file read order affected each caller, this sensitivity was considerably higher in pbsv, especially at higher read depths. Strikingly, over 70% of the pbsv SV calls differed when generated from the full depth Minimap2 alignments.
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