PanelApp statistics

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Citations per year

Number of citations per year for the bioinformatics software tool PanelApp
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Tool usage distribution map

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Associated diseases

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Protocols

PanelApp specifications

Information


Unique identifier OMICS_20258
Name PanelApp
Interface Web user interface
Restrictions to use None
Computer skills Basic
Stability Stable
Registration required Yes
Maintained Yes

Documentation


Additional information


https://youtu.be/BFosb7TU1sU

PanelApp citations

 (2)
call_split

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

2017
Prenat Diagn
PMCID: 5836855
PMID: 29096039
DOI: 10.1002/pd.5175
call_split See protocol

[…] e of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology guidelines. In cases where no likely diagnosis was identified, we undertook further analysis of a curated gene panel from PanelApp (https://bioinfo.extge.co.uk/crowdsourcing/PanelApp/). […]

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A protocol for whole exome sequencing in newborns with congenital deafness: a prospective population based cohort

2017
PMCID: 5862171
PMID: 29637142
DOI: 10.1136/bmjpo-2017-000119

[…] ss. It was constructed by comparing and merging gene lists from two pre-existing clinical diagnostic panels: OtoSCOPE and OtoGenome, and several research gene lists sourced from Genomics England (the PanelApp Congenital Hearing Impairment (profound/severe) panel v1.8), the Avraham laboratory, the Gasparini laboratory and the Rehm laboratory. Additional genes were added to the list based on recentl […]


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