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New Genetic Risk Findings from Johns Hopkins University Reported (Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare...

August 29, 2014



New Genetic Risk Findings from Johns Hopkins University Reported (Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral Clefts)

By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- New research on Genetics is the subject of a report. According to news reporting originating from Baltimore, Maryland, by NewsRx correspondents, research stated, "A dozen genes/regions have been confirmed as genetic risk factors for oral clefts in human association and linkage studies, and animal models argue even more genes may be involved. Genomic sequencing studies should identify specific causal variants and may reveal additional genes as influencing risk to oral clefts, which have a complex and heterogeneous etiology."

Our news editors obtained a quote from the research from Johns Hopkins University, "We conducted a whole exome sequencing (WES) study to search for potentially causal variants using affected relatives drawn from multiplex cleft families. Two or three affected second, third, and higher degree relatives from 55 multiplex families were sequenced. We examined rare single nucleotide variants (SNVs) shared by affected relatives in 348 recognized candidate genes. Exact probabilities that affected relatives would share these rare variants were calculated, given pedigree structures, and corrected for the number of variants tested. Five novel and potentially damaging SNVs shared by affected distant relatives were found and confirmed by Sanger sequencing. One damaging SNV in CDH1, shared by three affected second cousins from a single family, attained statistical significance (P = 0.02 after correcting for multiple tests)."

According to the news editors, the research concluded: "Family-based designs such as the one used in this WES study offer important advantages for identifying genes likely to be causing complex and heterogeneous disorders."

For more information on this research see: Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral Clefts. Genetics, 2014;197(3):1039-1044,484-492. Genetics can be contacted at: Genetics Society America, 9650 Rockville Ave, Bethesda, MD 20814, USA. (Cell Press - www.cell.com; Genetics - www.cell.com/trends/genetics/home)

The news editors report that additional information may be obtained by contacting A. Bureau, Johns Hopkins Sch Med, Inst Med Genet, Baltimore, MD 21224, United States. Additional authors for this research include M.M. Parker, I. Ruczinski, M.A. Taub, M.L. Marazita, J.C. Murray, E. Mangold, M.M. Noethen, K.U. Ludwig, J.B. Hetmanski, J.E. Bailey-Wilson, C.D. Cropp, Q. Li, S. Szymczak, H. Albacha-Hejazi, K. Alqosayer, L.L. Field and Wu-Chou (see also Genetics).

Keywords for this news article include: Maryland, Genetics, Baltimore, United States, Risk and Prevention, North and Central America

Our reports deliver fact-based news of research and discoveries from around the world. Copyright 2014, NewsRx LLC


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Source: Genomics & Genetics Weekly


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