Visualizing a human genome
Here you can visually probe a
de novo assembly of a human genome. The DNA for this demo comes from the
GM12878 immortalized cell line, from a woman of European ancestory who lived in
To see part of the assembly graph, enter a command in the box below.
will get you help and
will get you the part of the assembly aligning to the
human reference sequence
at position 90.26 megabases on chromosome 11, and
extending into the graph to depth 1. This example exhibits a 31 kb sequence that is
present on one copy of chr 11 in GM12878 but not present in the reference.
DISCOVAR de novo is work in progress that we'll gradually roll out.
This demo is for revision 50090 of the code.
Understanding the graphs. Each edge represents one
strand of a DNA sequence. The sequences themselves are
Edges are color-coded by length: gray < black < red < magenta.
Brown edges represent captured gaps.
Edges are labeled by index, length (for longer edges),
aligned position on the reference, and copy number where known
(1.00x means predicted to represent the two homologous chromosomes at one locus).
Red vertices denote points that 'continue on' in the full graph.