ID
45488
Description
Principal Investigator: Melissa Southey, PhD, The University of Melbourne, Melbourne, Australia MeSH: Breast Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000601 The project developed a suite of new methods (FAVR) designed to assist the shortlisting of genetic variants under a rare variant-phenotype/disease model. The methods were designed to work with commonly used massively parallel sequencing analysis pipelines, such as the GATK or ANNOVAR, and have been made publically available as a suite of software tools (https://github.com/bjpop/favr). The FAVR methods use signatures in comparator sequence alignment files to facilitate the filtering of mapping artifacts and common genetic variants, and annotation of genetic variants based on evidence of co-occurrence in individuals. As relevant, FAVR methods can also be used to filter out artifacts derived from imbalanced paired-end sequencing. Pope et al., BMC Bioinformatics, accepted Dec 2012.
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Versions (2)
- 11/9/22 11/9/22 - Dr. med. Lucy Kessler
- 12/13/22 12/13/22 - Kristina Keller
Copyright Holder
Melissa Southey, PhD, The University of Melbourne, Melbourne, Australia
Uploaded on
December 13, 2022
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License
Creative Commons BY 4.0
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dbGaP phs000601 Identifying the Genetic Explanation for Heritable Breast Cancer
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants involved in the "Filtering and Annotation of Variants That Are Rare (FAVR)" project.
- Family ID, subject ID, mother ID, father ID, and sex of participants involved in the "Filtering and Annotation of Variants That Are Rare (FAVR)" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable of participants involved in the "Filtering and Annotation of Variants That Are Rare (FAVR)" project.
- Sample ID, body site where sample was collected, analyte type, and tumor status of samples obtained from participants involved in the "Filtering and Annotation of Variants That Are Rare (FAVR)" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants involved in the "Filtering and Annotation of Variants That Are Rare (FAVR)" project.
- Family ID, subject ID, mother ID, father ID, and sex of participants involved in the "Filtering and Annotation of Variants That Are Rare (FAVR)" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable of participants involved in the "Filtering and Annotation of Variants That Are Rare (FAVR)" project.
- Sample ID, body site where sample was collected, analyte type, and tumor status of samples obtained from participants involved in the "Filtering and Annotation of Variants That Are Rare (FAVR)" project.
C0680251 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,2])