Challenges in Clinicogenetic Correlations: One Phenotype - Many Genes.

ABSTRACT:

Background

In the field of movement disorders, what you see (phenotype) is seldom what you get (genotype). Whereas 1 phenotype was previously associated to 1 gene, the advent of next-generation sequencing (NGS) has facilitated an exponential increase in disease-causing genes and genotype-phenotype correlations, and the "one-phenotype-many-genes" paradigm has become prominent.

Objectives

To highlight the "one-phenotype-many-genes" paradigm by discussing the main challenges, perspectives on how to address them, and future directions.

Methods

We performed a scoping review of the various aspects involved in identifying the underlying molecular cause of a movement disorder phenotype.

Results

The notable challenges are (1) the lack of gold standards, overlap in clini

SUBMITTER: Gannamani R 

PROVIDER: S-EPMC8015914 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature