Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

Abstract Background Recent studies have suggested that individual variants do not sufficiently explain the variable expressivity of phenotypes observed in complex disorders. For example, the 16p12.1 deletion is associated with developmental delay and neuropsychiatric features in affected individuals...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí: Matthew Jensen, Anastasia Tyryshkina, Lucilla Pizzo, Corrine Smolen, Maitreya Das, Emily Huber, Arjun Krishnan, Santhosh Girirajan
Formáid: Alt
Teanga:English
Foilsithe / Cruthaithe: BMC 2021-10-01
Sraith:Genome Medicine
Ábhair:
Copy-number variant
RNA sequencing
Complex disorders
Whole-genome sequencing
Inherited variants
Developmental disorders
Rochtain ar líne:https://doi.org/10.1186/s13073-021-00982-z

Ar líne

https://doi.org/10.1186/s13073-021-00982-z

Míreanna comhchosúla