Article

A method for complete characterization of complex germline rearrangements from long DNA reads

2019-10-05

Abstract excerpt

Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g. copy number changes. We describe full characterization of complex chromosomal rearrangements, based on whole-genome-coverage sequencing of long DNA reads from four patients with chromosomal translocations. We developed a new analysis pipeline, which filters out rearrangeme...

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Literature Corpus work: fdba8793-725b-50e6-80ba-96c6c5dfd340
DOI: 10.1101/19006379

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