Gene Discovery: From Biologic Plausibility to Genetic Evidence Supporting Disease Causation

Methods of gene discovery have changed dramatically over the years. In the absence of automated DNA sequencing technology, classical genetics relied primarily on limited DNA sequence knowledge, specifically in the form of polymorphic DNA markers representing short sequences of repetitive nucleotide sequences. Knowledge of the distribution of these markers across the genome allowed researchers to perform linkage analysis studies in large families, and to identify a shared set of DNA markers common to affected cases but absent in unaffected family members, effectively localizing a genomic region where the culprit gene must reside.

Source: Heart Rhythm - July 28, 2019 Category: Cardiology Authors: Michael H. Gollob Source Type: research