Article
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.
Birth defects research - 20 Jan 2017
Liu Huan, Busch Tamara, Eliason Steven, Anand Deepti, Bullard Steven, Gowans Lord J J, Nidey Nichole, Petrin Aline, Augustine-Akpan Eno-Abasi, Saadi Irfan, Dunnwald Martine, Lachke Salil A, Zhu Ying, Adeyemo Adebowale, Amendt Brad, Roscioli Tony, Cornell Robert, Murray Jeffrey, Butali Azeez
Abstract excerpt
BACKGROUND: Recent advances in genomics methodologies, in particular the availability of next-generation sequencing approaches have made it possible to identify risk loci throughout the genome, in particular the exome. In the current study, we present findings from an exome study conducted in five affected individuals of a multiplex family with cleft palate only. METHODS: The GEnome MINIng (GEMINI) pipeline was...
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