Ontology highlight
ABSTRACT:
SUBMITTER: Fu J
PROVIDER: S-EPMC5154821 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Fu Jack J Beaty Terri H TH Scott Alan F AF Hetmanski Jacqueline J Parker Margaret M MM Wilson Joan E Bailey JE Marazita Mary L ML Mangold Elisabeth E Albacha-Hejazi Hasan H Murray Jeffrey C JC Bureau Alexandre A Carey Jacob J Cristiano Stephen S Ruczinski Ingo I Scharpf Robert B RB
Genetic epidemiology 20161201 1
By sequencing the exomes of distantly related individuals in multiplex families, rare mutational and structural changes to coding DNA can be characterized and their relationship to disease risk can be assessed. Recently, several rare single nucleotide variants (SNVs) were associated with an increased risk of nonsyndromic oral cleft, highlighting the importance of rare sequence variants in oral clefts and illustrating the strength of family-based study designs. However, the extent to which rare d ...[more]