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UnknownTargeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
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S-EPMC9950176 | biostudies-literature
UnknownScaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
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S-EPMC8456155 | biostudies-literature
UnknownMutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping.
Not available
S-EPMC10326961 | biostudies-literature
UnknownApplication of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project.
Not available
S-EPMC8487486 | biostudies-literature
UnknownCerebral visual impairment: genetic diagnoses and phenotypic associations.
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S-EPMC11137471 | biostudies-literature
UnknownMultilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
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S-EPMC8904543 | biostudies-literature
UnknownWidespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
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S-EPMC10473570 | biostudies-literature
UnknownUncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
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S-EPMC9691823 | biostudies-literature
UnknownBiallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
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S-EPMC8956360 | biostudies-literature
UnknownAge and Sex Differences in the Genetics of Cardiomyopathy.
Not available
S-EPMC10721711 | biostudies-literature
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