Short tandem repeats, segmental duplications, gene deletion, and genomic instability in a rapidly diversified immune gene family

Segmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome

Background: Quantitative fluorescence-polymerase chain reaction (QF-PCR) is an inexpensive and accurate method for the prenatal diagnosis of aneuploidies that applies short tandem repeats (STRs) as a chromosome-specific marker. Despite its apparent advantages, QF-PCR is not applicable in all cases due to the presence of uninformative STRs. This study was carried out to investigate the efficienc...

Instability at Short Tandem Repeats in Lymphoblastoid Cell Lines

OBJECTIVES Epstein Barr virus (EBV)-transformed lymphoblastoid cell lines (LCLs) are a useful biological resource, however, genomic variations can happen during the generation and immortalization processes of LCLs. The purpose of this study was to identify genomic variations in LCL DNA compared with matched blood DNA using short tandem repeats (STRs) analysis. METHODS We analyzed 15 STRs with...

Genomic architecture of codfishes featured by expansions of innate immune genes and short tandem repeats

Signals of Historical Interlocus Gene Conversion in Human Segmental Duplications

Standard methods of DNA sequence analysis assume that sequences evolve independently, yet this assumption may not be appropriate for segmental duplications that exchange variants via interlocus gene conversion (IGC). Here, we use high quality multiple sequence alignments from well-annotated segmental duplications to systematically identify IGC signals in the human reference genome. Our analysis...

Notung: Dating Gene Duplications using Gene Family Trees