Browsing Anatomical Pathology by Subject "Whole genome sequencing (WGS)"

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A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension : a case report

Karolak, Justyna A.; Gambin, Tomasz; Honey, Engela M.; Slavik, Tomas; Popek, Edwina; Stankiewicz, Paweł (BioMed Central, 2020-03-06)

BACKGROUND : Application of whole genome sequencing (WGS) enables identification of non-coding variants that play a phenotype-modifying role and are undetectable by exome sequencing. Recently, non-coding regulatory single ...
New horizons in the diagnosis of tuberculosis of the spine : the role of whole genome sequencing

Ngcelwane, M.V. (Mthunzi); Omar, Shaheed V.; Said, H.M. (Halima Mohammed); Bida, Nndweleni Meshack (Korean Society of Spine Surgery, 2023-06)

STUDY DESIGN : Prospective study. PURPOSE : To evaluate the utility of whole genome sequencing (WGS) in drug resistance testing, lineage of the organisms, and organism-related factors responsible for bacilli settling in ...

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