R Allan Barker science | technology | history | philosophy + curiosity |
Last update April
28, 2022 |
Incredibly fast genome assembly and variant calling Your genome is very long. And, every human has two
genomes each with roughly 3 billion DNA bases that could
circle the Earth if each were about the size of an ant.
However, DNA scanning machines only produce small pieces
about 100 bases long. Analyzing just one human genome
requires billions of pieces with up to a trillion bases
that can take days to assemble and subsequently search for
the millions of variants that make you you. What's worse,
these millions of variations make the assembly much more
difficult, like assembling a jigsaw puzzle where many
pieces are blurred, missing, or just wrong.
The assembly window in part two shows:
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Video: fullscreen recommended |
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Discussion The software runs on ordinary PC/GPU computer hardware and
can be easily implemented anywhere at low cost. The
underlying algorithm can be described as an indexed neural
network. The same method is applicable to a number of
computational problems where the data can be described in
terms of features. |
Example variant callA dual homolog indel (insert, deletion) variant. |
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