Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

ConclusionIn this paper, we state that detection and interpretation of MEIs in clinical practice in targeted NGS data can be performed relatively easy despite the fact that MEIs very rarely occur in coding parts of the human genome. Large scale reanalysis of MEIs in existing cohorts may solve otherwise unsolvable cases.

Source: Molecular Genetics & Genomic Medicine - September 8, 2021 Category: Genetics & Stem Cells Authors: German Demidov, Joohyun Park, Sorin Armeanu ‐Ebinger, Cristiana Roggia, Ulrike Faust, Isabell Cordts, Maria Blandfort, Tobias B. Haack, Christopher Schroeder, Stephan Ossowski Tags: ORIGINAL ARTICLE Source Type: research