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Linkage and sequence analysis in families

Published on May 29, 2017   54 min

A selection of talks on Methods

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0:00
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.
0:18
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.
0:39
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.
1:27
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.