LINE1 insertions as a genomic risk factor for schizophrenia: Preliminary evidence from an affected family.

ABSTRACT: Recent studies show that human-specific LINE1s (L1HS) play a key role in the development of the central nervous system (CNS) and its disorders, and that their transpositions within the human genome are more common than previously thought. Many polymorphic L1HS, that is, present or absent across individuals, are not annotated in the current release of the genome and are customarily termed "non-reference L1s." We developed an analytical workflow to identify L1 polymorphic insertions with next-generation sequencing (NGS) using data from a family in which SZ segregates. Our workflow exploits two independent algorithms to detect non-reference L1 insertions, performs local de novo alignment of the regions harboring predicted L1 insertions and resolves the L1 subfamily designation from the de nov

SUBMITTER: Guffanti G 

PROVIDER: S-EPMC12831517 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature