Found: 23
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Hypothesis-free phenotype prediction within a genetics-first framework.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36634-6
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- Article
Erratum: Whole-genome sequence-based analysis of thyroid function.
- Published in:
- Nature Communications, 2015, v. 6, n. 5, p. 7172, doi. 10.1038/ncomms8172
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- Publication type:
- Article
Whole-genome sequence-based analysis of thyroid function.
- Published in:
- Nature Communications, 2015, v. 6, n. 3, p. 5681, doi. 10.1038/ncomms6681
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- Article
Role of DNA Methylation in Type 2 Diabetes Etiology: Using Genotype as a Causal Anchor.
- Published in:
- 2017
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- Publication type:
- journal article
Copy Number Variations and Cognitive Phenotypes in Unselected Populations.
- Published in:
- JAMA: Journal of the American Medical Association, 2015, v. 313, n. 20, p. 2044, doi. 10.1001/jama.2015.4845
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- Publication type:
- Article
An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome.
- Published in:
- BMC Bioinformatics, 2017, v. 18, p. 1, doi. 10.1186/s12859-017-1862-y
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- Publication type:
- Article
GTB - an online genome tolerance browser.
- Published in:
- BMC Bioinformatics, 2017, v. 18, p. 1, doi. 10.1186/s12859-016-1436-4
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- Publication type:
- Article
Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions.
- Published in:
- Annals of Human Genetics, 2016, v. 80, n. 3, p. 187, doi. 10.1111/ahg.12150
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- Publication type:
- Article
EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 5, p. 1, doi. 10.1093/nar/gku1322
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- Publication type:
- Article
FATHMM-XF: accurate prediction of pathogenic point mutations via extended features.
- Published in:
- Bioinformatics, 2018, v. 34, n. 3, p. 511, doi. 10.1093/bioinformatics/btx536
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- Publication type:
- Article
HIPred: an integrative approach to predicting haploinsufficient genes.
- Published in:
- Bioinformatics, 2017, v. 33, n. 12, p. 1751, doi. 10.1093/bioinformatics/btx028
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- Publication type:
- Article
An integrative approach to predicting the functional effects of non-coding and coding sequence variation.
- Published in:
- Bioinformatics, 2015, v. 31, n. 10, p. 1536, doi. 10.1093/bioinformatics/btv009
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- Publication type:
- Article
Predicting the functional consequences of cancer-associated amino acid substitutions.
- Published in:
- Bioinformatics, 2013, v. 29, n. 12, p. 1504, doi. 10.1093/bioinformatics/btt182
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- Publication type:
- Article
Maternal pre-pregnancy BMI and gestational weight gain, offspring DNA methylation and later offspring adiposity: findings from the Avon Longitudinal Study of Parents and Children.
- Published in:
- 2015
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- Publication type:
- journal article
Data Resource Profile: Accessible Resource for Integrated Epigenomic Studies (ARIES).
- Published in:
- 2015
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- Publication type:
- journal article
Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 57, doi. 10.1002/humu.22225
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- Publication type:
- Article
Collapsed methylation quantitative trait loci analysis for low frequency and rare variants.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4339, doi. 10.1093/hmg/ddw283
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- Publication type:
- Article
Mosaic structural variation in children with developmental disorders.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 10, p. 2733, doi. 10.1093/hmg/ddv033
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- Publication type:
- Article
Systematic identification of genetic influences on methylation across the human life course.
- Published in:
- Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-0926-z
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- Publication type:
- Article
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts.
- Published in:
- Human Genomics, 2014, v. 8, n. 1, p. 1, doi. 10.1186/1479-7364-8-11
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- Publication type:
- Article
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/923491
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- Publication type:
- Article
Frequency of KLK3 gene deletions in the general population.
- Published in:
- 2017
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- Publication type:
- journal article
A Protein Domain and Family Based Approach to Rare Variant Association Analysis.
- Published in:
- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153803
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- Article