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ADD: method.rst: Orientation
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thiago-miller committed Dec 24, 2019
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56 changes: 55 additions & 1 deletion docs/method.rst
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Expand Up @@ -174,7 +174,7 @@ The denser (covered) the region the greater the chance of a
retrotransposition event there.

For more informations about the algorithm, a good start point
is the wikipedia article: https://en.wikipedia.org/wiki/DBSCAN.
is the Wikipedia article: https://en.wikipedia.org/wiki/DBSCAN.

Genotype
========
Expand Down Expand Up @@ -255,6 +255,60 @@ calculate the **genotype likelihoods**.
:scale: 25%
:align: center

Orientation
===========

Other important information that can be obtained from the data is the
retrocopy **orientation** in relation to its parental gene. The abnormal
alignment *reads* give us the clue to solve this issue. We catch *reads*
when one pair aligns against an exon and its mate aligns to some genomic
region, so we can **sort** the *reads* from the exonic site and analyze
if their mates will be sorted in **ascending** or **descending** order as
result. If we observe that they are **directly** proportional, then we can
assume that the retrocopy is at the **same** parental gene strand, else they
are at **opposite** strands.

.. warning::
This approach disregards the fact that there may have been structural variations,
such as chromosomal inversions, which may invalidate these results.

Therefore summarizing:

* Retrocopy and its parental gene are at the same strand

.. image:: images/orientation_same_strand.png
:scale: 25%
:align: center

* Retrocopy and its parental gene are at opposite strands

.. image:: images/orientation_opposite_strand.png
:scale: 25%
:align: center

Spearman's rank correlation coefficient
---------------------------------------

We use Spearman's rank correlation coefficient (see Wikipedia article:
https://en.wikipedia.org/wiki/Spearman%27s_rank_correlation_coefficient) in
order to have a **measure** of relationship between *reads* from exon and their
mates from clustering site. As our data is **nonparametric**, the Spearman's rho
can assess **monotonic** relationship, that is, it can tell us if the genomic
position of *reads* from exon **increases** when **does** the genomic position of
their *mates* from clustering site (positive rho) - or the opposite (negative rho).

So we come to the following proposition:

+----------------------+---------+---------+
| | Retrocopy strand |
| Parental gene strand +---------+---------+
| | rho > 0 | rho < 0 |
+======================+=========+=========+
| \+ | \+ | \- |
+----------------------+---------+---------+
| \- | \- | \+ |
+----------------------+---------+---------+

References
==========

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