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Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

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1 Published in 2022 at "Human Mutation"

DOI: 10.1002/humu.24380

Abstract: Rare disease diagnostics and disease gene discovery have been revolutionized by whole‐exome and genome sequencing but identifying the causative variant(s) from the millions in each individual remains challenging. The use of deep phenotyping of patients… read more here.

Keywords: rare disease; phenotype driven; disease; diagnosis ... See more keywords

Phenotype-driven strategies for screening Candida parapsilosis complex for molecular identification

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0 Published in 2018 at "Brazilian Journal of Microbiology"

DOI: 10.1016/j.bjm.2017.11.004

Abstract: In this study, phenotypic methods presented >80% agreement with the molecular identification of 59 Candida parapsilosis complex. Growth at 15% NaCl or pH 7.0 significantly reduced cfu-counts of Candida orthopsilosis, suggesting these conditions may support… read more here.

Keywords: candida parapsilosis; parapsilosis; phenotype driven; parapsilosis complex ... See more keywords

OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants

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0 Published in 2018 at "Scientific Reports"

DOI: 10.1038/s41598-018-32876-3

Abstract: An increasing number of disorders have been identified for which two or more distinct alleles in two or more genes are required to either cause the disease or to significantly modify its onset, severity or… read more here.

Keywords: oligogenic disease; information; analysis; disease ... See more keywords

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

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1 Published in 2022 at "Haematologica"

DOI: 10.3324/haematol.2022.280993

Abstract: Inherited thrombocytopenias (ITs) are genetic diseases characterized by low platelet count, possibly associated with congenital defects or predisposition to develop additional conditions. Next generation sequencing has consistently improved our knowledge of ITs, with >40 genes… read more here.

Keywords: 116 patients; phenotype; phenotype driven; driven diagnostic ... See more keywords

Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease

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1 Published in 2019 at "Frontiers in Pharmacology"

DOI: 10.3389/fphar.2018.01529

Abstract: Objective: Whole Exome Sequencing (WES) is an effective diagnostic method for complicated and multi-system involved rare diseases. However, annotation and analysis of the WES result, especially for single case analysis still remain a challenge. Here,… read more here.

Keywords: wes data; phenotype driven; method; virtual panel ... See more keywords