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UnknownAge and Sex Differences in the Genetics of Cardiomyopathy.
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S-EPMC10721711 | 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
UnknownA founder <i>UMOD</i> variant is a common cause of hereditary nephropathy in the British population.
Not available
S-EPMC10086494 | biostudies-literature
UnknownMultilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
Not available
S-EPMC8904543 | biostudies-literature
UnknownSubstitution mutational signatures in whole-genome-sequenced cancers in the UK population.
Not available
S-EPMC7613262 | biostudies-literature
UnknownA genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
Not available
S-EPMC10256716 | biostudies-literature
UnknownCopy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.
Not available
S-EPMC11613694 | biostudies-literature
UnknownCraniosynostosis, inner ear, and renal anomalies in a child with complete loss of <i>SPRY1</i> (sprouty homolog 1) function.
Not available
S-EPMC10359576 | biostudies-literature
UnknownThe relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas.
Not available
S-EPMC11993446 | biostudies-literature
UnknownTargeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
Not available
S-EPMC9950176 | biostudies-literature
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