Found: 14
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Unraveling genomic variation from next generation sequencing data.
- Published in:
- BioData Mining, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0381-6-13
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- Publication type:
- Article
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
- Published in:
- Genome Medicine, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13073-020-00772-z
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- Publication type:
- Article
Problems with the nested granularity of feature domains in bioinformatics: the eXtasy case.
- Published in:
- BMC Bioinformatics, 2015, v. 16, p. 1, doi. 10.1186/1471-2105-16-S4-S2
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- Publication type:
- Article
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
- Published in:
- Nature Genetics, 2015, v. 47, n. 11, p. 1363, doi. 10.1038/ng.3410
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- Publication type:
- Article
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 445, doi. 10.1038/ng.1105
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- Publication type:
- Article
The contribution of X-linked coding variation to severe developmental disorders.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-020-20852-3
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- Publication type:
- Article
eXtasy: variant prioritization by genomic data fusion.
- Published in:
- Nature Methods, 2013, v. 10, n. 11, p. 1083, doi. 10.1038/nmeth.2656
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- Publication type:
- Article
Beegle: from literature mining to disease-gene discovery.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 2, p. 1, doi. 10.1093/nar/gkv905
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- Publication type:
- Article
Meander: visually exploring the structural variome using space-filling curves.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 11, p. e118, doi. 10.1093/nar/gkt254
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- Publication type:
- Article
Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease.
- Published in:
- 2012
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- Publication type:
- Case Study
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 7, p. 1, doi. 10.1371/journal.pgen.1009679
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- Publication type:
- Article
TrioVis: a visualization approach for filtering genomic variants of parent–child trios.
- Published in:
- Bioinformatics, 2013, v. 29, n. 14, p. 1801, doi. 10.1093/bioinformatics/btt267
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- Publication type:
- Article
Contribution of retrotransposition to developmental disorders.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12520-y
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- Publication type:
- Article