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The title of this presentation is
Linkage and Sequence Analysis
in Families.
My name is Chris Amos.
A reference for this presentation
is current protocols
in human genetics
including several units
in chapter one.
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The goals of genetic studies
include obtaining new insights
into the pathogenesis
of complex diseases like cancer,
developing strategies for characterizing
individual risk for disease,
towards improving early diagnosis
and screening
or developing new strategies
for prevention and treatment.
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And there are a range of effects
from the alleles
that influence a genetic disease
ranging from high risk
but relatively uncommon variants.
Those can be detected
through family studies
and in particular the linkage methods
that I will be describing in this talk.
On the other extreme,
there are low effect sized
common variants
that can be detected
by association studies
and then in the middle
are the low effect
and relatively uncommon
which can be detected
by sequencing of enriched families
that include multiple relatives.
So I will mostly be discussing
those relatively uncommon
but highly penetrant variants
in this talk.
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Topics in this presentation
include meiosis and linkage,
family structure
and phasing of gametes,
the Elston Stewart
and Lander Green likelihood formulations
for linkage analysis,
model-free linkage tests,
sequencing analysis in families,
and finally an example of linkage
and sequencing in a family.
