Aneuploidy and copy number alterations describe DNA duplication and deletion events that range from a small number of base pairs in the genome to whole chromosomes. Both conditions have been involved in disease, and are especially prominent in cancer1. In fact, more than ~90% of solid tumors ...
Size: Number of basepairs in the segment. NumberReadsMapped: Total number of reads aligning to the segment. Breakpoint edges section: The edges in the section correspond to 2 positions (breakpoint vertices) in the reference genome that are connected together in the amplicon. Tab-separated fields...
Specifically, the [Math Processing Error](N2) item pairs in S can be classified into one of the four types: (i) N11: the number of pairs that are in the same partition in both U and V; (ii) N00: the number of pairs that are in different partitions in both U and V; (iii) N...
From sequencing manyhuman genomes, is it apparent that there is wide variation in the numbers of copies of individual genomic regions because of local duplications and deletions spanning from a fewbasepairs to many kilobases[30,31]. Such copy-number variation (CNV) can have profound effects on ...
The number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered pheny
Required. ODIR=Directory Directory to write output files. Default value: "." BINSIZE=(Integer|enum) Size of bins in base pairs. Default value: "auto". Possible values: {auto,INTEGER}. If set to "auto" then determine bin size dynamically ...
Copy number variation is an important class of genomic variation that has been reported in 75% of the human genome. However, it is underreported in African populations. Copy number variants (CNVs) could have important impacts on disease susceptibility an
Ultraconserved Elements in the Human Genome There are 481 segments longer than 200 base pairs (bp) that are absolutely conserved (100% identity with no insertions or deletions) between orthologous regions of the human, rat, and mouse genomes. Nearly all of these segments are also ... G...
The lowest number observed for the Sarda sheep was expected as the reference DNA was from another animal of the same breed. This result is in line with what has been reported for mouse, dog, and goat aCGH studies in which breeds/lines of the same subjects used as reference showed the ...
Cancer driver genes can undergo positive selection for various types of genetic alterations, including gain-of-function or loss-of-function mutations and copy number alterations (CNA). We investigated the landscape of different types of alterations affec