Geneticists have made tremendous progress in understanding the genetic basis of
phenotypes, and genomics promises to bring further insights at a rapid pace. The progress …

The past few years have seen a marked increase in the demand for practical methods of
mutation detection. Over this period of time, both the development of new methods and …

Over 170 known mutations of the mitochondrial genome are responsible for disease. Due to
the unique features of mitochondrial genetics, such patients are clinically diverse and …

6, 291, 183 B1 9/2001 Pirrung et al. 6, 308, 170 B1 10/2001 Balaban 6, 309, 823 B1
10/2001 Cronin et al. 6, 333, 155 B1 12/2001 Lockhart et al. 6, 342, 355 B1 1/2002 Hacia et …

The EPM1 locus responsible for progressive myoclonus epilepsy of Unverricht-Lundborg
type (MIM 254800) maps to a region in distal chromosome 21q where positional cloning has …

The present invention relates generally to the field of genomics. More particularly, the
present invention relates to a method for gene identification beginning with user-selected …

Although there are several methods for genotyping previously identified single nucleotide
polymorphisms (SNPs), there is a paucity of approaches for high-throughput scanning for …

Advances in molecular biology and genetics in recent years have made it possible to identify
the molecular defects in many genetic disorders with simple Mendelian inheritance with the …

After a decade of intensive use as an in vitro alternative to cloning DNA, PCR is now well
established as the default method for DNA and RNA analysis. Recent developments have …

The detection of genetic mutations is of paramount importance for the study, diagnosis, and
treatment of human genetic disease. Methods of detection generally fall into one of two …