Initial sequencing and comparative analysis of the mouse genome

 At 2014-03-16 02:40:49 AM  |   95

The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research. Here, we report the results of an international collaboration to produce a high-quality draft sequence of the mouse genome.  Read more

Microarray-based Comparative Genomic Hybridization (aCGH)

 At 2014-02-25 08:09:11 PM  |   228

Many human genetic disorders result from unbalanced chromosomal abnormalities, in which there is net gain or loss of genetic material. Traditionally, cytologists have detected such abnormalities by generating a karyotype of a person's chromosomes and analyzing the banding patterns therein. Indeed, since its development in the 1970s, cytogenetic analysis of banding patterns has been the primary tool for the clinical assessment of patients with a variety of congenital anomalies. Under ideal conditions, aberrations as small as approximately 5 megabases (Mb) can be detected with banding analysis; such chromosome rearrangements are termed "microscopic." Read more

Sibelia: A synteny blocks generation tool.

 At 2013-09-26 12:25:51 AM  |   134

Sibelia: A scalable and comprehensive synteny block generation tool for closely related microbial genomes. Read more

The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA.

 At 2013-09-28 04:26:06 AM  |   231

The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages.  Read more

THetA: Inferring intra-tumor heterogeneity from high- throughput DNA sequencing data

 At 2013-09-26 12:27:11 AM  |   342

THetA (Tumor Heterogeneity Analysis), an algorithm that infers the most likely collection of genomes and their proportions in a sample, for the case where copy number aberrations distinguish subpopulations. Read more