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George Carvalho
Jun 22, 2018
b511833 · Jun 22, 2018
Jun 22, 2018

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Awesome papers and projects about CNV and SV using NGS data 📚

Relevant studies with Structual Variants and Copy Number Variants in NGS (Genome, Exome and Amplicon Sequencing) pipelines.

Background CNV and SV

Long read

WGS

WES

KaryoScan: abnormal karyotype detection from whole-exome sequence - github

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Relevant papers for CNV and SV pipeline

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