Found: 14
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Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01204-4
- By:
- Publication type:
- Article
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
- Published in:
- Human Genetics, 2023, v. 142, n. 3, p. 351, doi. 10.1007/s00439-022-02509-x
- By:
- Publication type:
- Article
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32908-7
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- Publication type:
- Article
Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project.
- Published in:
- BMC Research Notes, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13104-021-05789-0
- By:
- Publication type:
- Article
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00330-z
- By:
- Publication type:
- Article
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-32169-4
- By:
- Publication type:
- Article
Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15336-3
- By:
- Publication type:
- Article
Late diagnoses of Dravet syndrome: How many individuals are we missing?
- Published in:
- Epilepsia Open, 2021, v. 6, n. 4, p. 770, doi. 10.1002/epi4.12525
- By:
- Publication type:
- Article
Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14928-x
- By:
- Publication type:
- Article
Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06525-9
- By:
- Publication type:
- Article
A novel likely pathogenic CLCN5 variant in Dent's disease.
- Published in:
- 2023
- By:
- Publication type:
- Case Study