Caros amigos e colegas:
Lembro a todos da conferencia do Bruce Weir na segunda feira as 14 horas
no anfiteatro Jacy monteiro no Bloco B.
Bruce é um dos mais importantes pesquisadores em genética estatística com
uma produção vasta em vários aspectos da genética teórica e quantitativa.
Tanto populacional como clínica!
Minha programação com ele está abaixo. Estaremos visitando outros centros
devido ao nosso interesse em trazer para São Paulo o summer course de
genética estatística. Vamos tentar usar o projeto fapesp "escola paulista".
Minha boa noticia é que a FAPESP reconsiderou meu pedido e me concedeu
todo o auxílio para a visita do Bruce.
The good news is that FAPESP reconsidered my project and gave me all the
perdiens I have asked to support Bruce visit.
Here is the schedule again. The other important fact is that we are coing
to record in IME his talk that would go in USPTV to
Ribeirão Preto.
I hope all people from your groups can participate in these activities.
The IME Talk would be at 2 PM in the Jacy room.
Best wishes
Carlos
Program for the Visit of Bruce Weir, Professor and Chair, of the
Department of Biostatistics, University of Washington in Seattle.
1. The abstracts of the conferences
Title of the 1st conference:
?The heritability of human height?
1.1 Abstract
In 1886 Francis Galton published data on heights for people and their
parents. He showed that people?s heights tended to be closer to the
population mean height than was the average of their parents? heights,
introducing the concept of ?regression to the mean.? He went on to show
that the relationship between the heights of pairs of people depends on the
degree of relatedness between the pair. His work was replicated by Karl
Pearson in 1903, three years after the rediscovery of Mendel?s Laws and ?in
the present controversial phase of the theory of heredity.? With the
introduction of quantitative genetic models (and the analysis of variance)
by R.A. Fisher in 1918 we now express the correlation in heights for pairs
of people in terms of their relatedness and the heritability of height.
Heritability of a trait is the portion of variance in trait values that has
an (additive) genetic component. By measuring heights on pairs of people of
known family relatedness, geneticists have estimated the heritability of
human height to be about 0.80. The recent flurry of genome-wide association
studies has revealed many genetic markers, SNPs, as - associated with
height ? a 2010 publication listed 135 from a meta-analysis of 133,653
heights. However, these SNPs collectively accounted for only 10% of the
variation in height and the search began for the ?missing heritability.?
Using data from the GENEVA pro ject that have been processed in our
department, P.M. Visscher has extended the early work of Galton, Pearson
and Fisher by using all the SNPs scored in a genome-wide scan, and by using
measures of relatedness estimated from these SNPs instead of being inferred
from family history. He could account for 45% of the variation. I will
explain his approach (Yang et al., Nature Genetics 43:519?525, 2011) and
suggest ways to account for the remaining 35%.
Title of the 2nd conference:
?Somatic mosaicism for large chromosomal anomalies?
1.2 Abstract
Mosaics for large chromosomal anomalies (duplications, deletions and
uniparental disomy) have been detected using SNP microarray data from over
50,000 subjects recruited for genome-wide association studies as part of
the GENEVA Consortium. The frequency of chromosomal mosaicism in peripheral
blood is low from birth until 50 years of age, after which it rises rapidly
in the elderly. Many of the mosaic anomalies are characteristic of those
found in hematological cancers and identify common deleted regions that
pinpoint the locations of genes previously associated with hematological
cancers.
The methodology used to detect these anomalies was developed for the
GENEVA project by a team led by Dr. Cathy Laurie and will be discussed
here. Results to be shown include those presented at the 2011 International
Congress of Human Genetics.
2. The Week of Activities
1. 12/03/2012 USP - Sao Paulo Statistics: "The heritability of human
height."
2. 13/03/2012 ? USP ? Piracicaba Statistics: "The heritability of human
height."
3. 14/03/2012 ? USP ? Piracicaba Genetics: "Somatic mosaicism for large
chromosomal anomalies."
4. 15/03/2012 ? USP ? Sao Paulo Biology: "Somatic mosaicism for large
chromosomal anomalies"
5. 16/03/2012 ? USP ? São Paulo Medicina: Discussion of research projects
I would like to remind you that on 18th of March starts our congress of
Bayesian Analysis. It goes to March 22nd.
This is the biannual ISBrA (a Brazilian chapter of the international
society for Bayeasian analysis) meeting. The program and venue are superb.
Carlos Alberto de Braganca Pereira <cpereira@ime.usp.br>