Molecular and Cytogenetics

Question 1

internationally-recognized standard for the description of DNA, RNA, and protein sequence variants (nucleotide variants)

Answer 1

Human Genome Variation Society (HGVS) nomenclature

Question 2

standardised nomenclature for chromosome variants

Answer 2

International system for Human Cytogenomics (ISCN)

Question 3

What is heteroplasmy

Answer 3

The presence of more than one type of organellar genome (mitochondrial or plastid DNA) within a cell or individual