Methods for detecting copy-number variations in next-generation sequencing

摘要: Copy Number Variants (CNV) detection methods described herein may efficiently integrate CNV into the workflow for a next generation sequencer (NGS) data processing, in parallel with SNP and INDEL variant calling. as be performed by analyzing coverage pattern across suitable set of genomic regions or amplicons batch samples from different patients. The proposed do not require use specifically chosen reference inputs to workflow, but rather automatically select same batch, each sample being tested. reliably detect CNVs without prior assumptions about status any those samples. Embodiments also apply scheme iteratively further improve performance, especially case more frequent occurrence. Since knowledge on their comparison tested, comprise step feeding back information found iteration step. additional available NGS samples, such fractions, input detection.