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Search results for: Phenotype

Underdiagnosis of monogenic heart and vascular diseases

Through performing whole-exome sequencing (WES), researchers have found that diagnoses for monogenic cardiovascular diseases (MCVDs) may have previously been missed. […]

Phenotypic refinement critical in exome interpretation

A recent study published in Genetics in Medicine explored the importance of refining phenotypic information for more effective exome data […]

Methylmalonic acid represents a link between ageing and cancer

A study published in Nature has explored the role of age-induced accumulation of methylmalonic acid in cancer progression. Disease of […]

Structures of the heart reveal risk to cardiovascular disease

A recent study published in Nature has explored the fractal structure of the heart, revealing its influence on susceptibility to […]

How to: perform polygenic risk score analysis

A recent article published in Nature Protocols highlights key issues related to polygenic risk score analyses and provides a starting […]

Biologically-validated AI is how scientists are realising the full potential of single-cell RNA sequencing

The promise of single-cell gene expression data Genomic data are an excellent source of novel disease biomarkers and targets. In […]

Capture the dark genome: From repeat-expansions to CRISPR unintended mutations – Webinar Summary

Tackling Disease-Related Repeat Expansion Analysis – Marzia Rossato What is the Dark Genome? The dark genome refers to parts of […]

A look inside a rapid exome sequencing lab

The ability to sequence a patient’s genome can be an invaluable tool in healthcare, especially as we move towards more […]

Whole genome, whole exome or panel sequencing in precision oncology clinical trials

With a wealth of genomic technologies rapidly advancing with falling cost, implementing genomics into trials and routine care is becoming […]

New single-cell sperm sequencing method uncovers insights into meiotic variation

A new method has allowed researchers at Harvard Medical School to examine variation in meiosis by studying tens of thousands […]