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SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing. #StructuralVariants #CopyNumberVariations #LongRead #Sequencing #Genomics #Bioinformatics @natmethods.nature.com‬
www.nature.com/articles/s41...
SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing - Nature Methods
SAVANA is a tool to detect somatic structural variants and copy number aberrations using long-read sequencing data, offering high sensitivity, specificity and compatibility with or without germline…
www.nature.com
June 3, 2025 at 4:32 PM
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Genotyping short tandem repeats across copy number alterations, aneuploidies, and polyploid organisms. #ShortTandemRepeats #STR #CopyNumberVariations #CNV #Polyploids #Genomics Bioinformatics @commsbio.nature.com 🧬 🖥️
www.nature.com/articles/s42...
October 16, 2025 at 4:32 PM
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ZIPcnv: accurate and efficient inference of copy number variations from shallow whole-genome sequencing
Jin, X., Lai, X. et al.
Paper
Details
#ZIPcnv #CopyNumberVariations #GenomicSequencing
June 20, 2025 at 9:02 AM