Targeted deep sequencing reveals no definitive evidence for somatic mosaicism in atrial fibrillation.

Targeted Deep Sequencing Reveals No Evidence for Somatic Mosaicism in Atrial Fibrillation Running title: Roberts et al.; Somatic Mosaicism and Atrial Fibrillation

Targeted Deep Sequencing Reveals No Definitive Evidence for Somatic Mosaicism in Atrial Fibrillation Running title: Roberts et al.; Somatic Mosaicism and Atrial Fibrillation

Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Cardiovascular Research Institute, Department of Medicine, California Institute for Quantitative Biosciences and Institute for Human Genetics, University of California San Francisco, San Francisco; Division of Cardiovascular Surgery, Sutter Health, Sacramento, CA; Arrhythmia Research Laboratory, University of ...

Ultra-fast local-haplotype variant calling using paired-end DNA-sequencing data reveals somatic mosaicism in tumor and normal blood samples

Somatic mosaicism refers to the existence of somatic mutations in a fraction of somatic cells in a single biological sample. Its importance has mainly been discussed in theory although experimental work has started to emerge linking somatic mosaicism to disease diagnosis. Through novel statistical modeling of paired-end DNA-sequencing data using blood-derived DNA from healthy donors as well as ...

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future offspring. Using dideoxy sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA. Mutation quantification was perfor...

Application of Peptide Nucleic Acid-based Assays Toward Detection of Somatic Mosaicism

Peptide nucleic acids (PNAs) are synthetic oligonucleotides with many applications. Compared with DNA, PNAs bind their complementary DNA strand with higher specificity and strength, an attribute that can make it an effective polymerase chain reaction clamp. A growing body of work has demonstrated the utility of PNAs in detecting low levels of mutant DNA, particularly in the detection of circula...