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Holoprosencephaly: A clinical genomics perspective
Author(s) -
Solomon Benjamin D.,
Retterer Kyle,
Juusola Jane
Publication year - 2018
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31613
Subject(s) - holoprosencephaly , exome sequencing , exome , perspective (graphical) , genetic testing , genomics , computational biology , biology , medicine , bioinformatics , genetics , genome , gene , mutation , computer science , artificial intelligence , pregnancy , fetus
New and rapidly evolving technologies have dramatically impacted the practice of clinical genetics as well as broader areas of medicine. To illustrate this trend from the perspective of a clinical molecular laboratory, we briefly summarize our general experience conducting exome testing for patients with holoprosencephaly (HPE). Though these cases are not representative of HPE more generally (i.e., cases undergoing exome sequencing represent a skewed sample), results include a 22% positive rate from exome testing. Of interest, 29% of reported results involved genes not considered to be classic HPE genes, indicating more evidence that HPE may fall within the severe spectrum of many other genetic conditions.