A deeper understanding of how DNA changes over generations helps scientists learn why people differ and how diseases develop.

Genome editing technologies like CRISPR-Cas9 have transformed biology, medicine, and agriculture, but concerns remain about ...

For example, some PSEN2 mutations showed lower stability or expression of the harmful allele, which might explain why symptoms occurred later than expected. In the case of APP, some mutations not only ...

For example, Huntington’s disease (HD), the first expansion disorder discovered, occurs when a cysteine-arginine-guanine (CAG) trinucleotide in the HTT gene swells to 40 or more repeats. Such ...

Huntington’s disease, an inherited disorder that results in the death of brain cells.The disease is caused by a dominant mutation in either one or both alleles of a gene called Huntingtin.; ...

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Annotates variants in MAF with OncoKB annotation. Contribute to oncokb/oncokb-annotator development by creating an account on GitHub.

Variants with allele frequency more than 2 times allele frequency of the according normal allele are kept. Variants with allele frequency less than 5% in background sample are kept. Guided Tutorial. .

The Nature paper has identified an HLA allele, known as HLA-B* 15:01, that could shed light on why some people don’t get symptoms when they’re infected with SARS-CoV-2 (the virus that causes ...

In this study, we developed a new strategy for non-invasive prenatal screening for single-gene disorders based on a capillary electrophoresis (CE) platform using an amplification refractory mutation ...

For example, older parents contribute more – and also different types of – new mutations to their ... We applied NMF to the 96 × 45 dimensions matrix containing the normalized allele counts for 96 ...