Found: 6
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OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00854-6
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- Publication type:
- Article
Go Get Data (GGD) is a framework that facilitates reproducible access to genomic data.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22381-z
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- Publication type:
- Article
Samplot: a platform for structural variant visual validation and automated filtering.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02380-5
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- Publication type:
- Article
Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate.
- Published in:
- BMC Bioinformatics, 2022, v. 22, n. 14, p. 1, doi. 10.1186/s12859-022-05008-y
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- Publication type:
- Article
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.
- Published in:
- BMC Bioinformatics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12859-022-05041-x
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- Publication type:
- Article
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1888
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- Publication type:
- Article