It is generally assumed that the basic genetic material is DNA (deoxyribonucleic acid). How are the molecules of DNA arranged in the chromosome, and how do they make replicas of themselves?

The Expanded NF1-Rasopathy panel by NGS involves the simultaneous sequencing of 17 genes: NF1, SPRED1 ... and frameshifts caused by deletion/ duplication up to 112bp. Deletion/duplication analysis for ...

For instance, deletions that span a centromere result in an acentric chromosome that will most likely be lost during cell division. As with duplications, deletions can affect gene dosage and thus ...

c) For the inverted duplications, the ideograms and partial karyotypes of two chromosome 15s show the two different sizes of inv dup (15) chromosomes. The smaller inv dup (15), on the left ...