Molecular Genetics & Genomic Medicine has published its latest issue. Our third issue has some great papers covering the areas of Parkinson’s disease, hypercholesterolaemia, and gene therapy. Below are two papers selected as highlights by EIC Max Muenke:
Twin mitochondrial sequence analysis
Yosr Bouhlal, Selena Martinez, Henry Gong, Kevin Dumas and Joseph T. C. Shieh
Summary: It is increasingly important to resolve variation in regions of the genome that have homology. Mitochondrial sequences can reveal somatic variation and homologous nuclear mitochondrial sequences known as numts. In this study, we examined mitochondrial sequence variation using high-throughput sequencing and complementary techniques to evaluate a pair of adult twins.
Quantitative trait locus linkage analysis in a large Amish pedigree identifies novel candidate loci for erythrocyte traits
Jesse D. Hinckley, Diana Abbott, Trudy L. Burns, Meadow Heiman, Amy D. Shapiro, Kai Wang and Jorge Di Paola
Summary: We performed a genome-wide quantitative trait locus (QTL) linkage analysis of a large Amish pedigree for complete blood count (CBC) traits. We identified novel linkage signals and confirmed previously reported ones. We believe that linkage studies in large pedigrees like the one presented here will likely allow investigators to focus the search for rare variants amidst the noise encountered in the large amounts of data generated by new whole genome sequencing.
You can meet Max Muenke at the Wiley booth at the forthcoming American Society of Human Genetics Conference – Wed 23 Oct, 11am-12pm.
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