Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders - Concepedia

Concepedia

Publication | Open Access

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

DOI Full Paper Access

79

Citations

39

References

2019

Year

Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron, Pierre‐Antoine Rollat‐Farnier, Claire Bardel, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Blesson, Patrick Callier,

Journal of Medical Genetics

Abstract

Paired-end WGS is a valid strategy and may be used for structural variation characterisation in a clinical setting.

References

	Year	Citations

Page 1