Jaume Sastre Tomas

Jaume Sastre Tomas
  • Telecomunications Engineer
  • PhD Student at University of the Balearic Islands

About

15
Publications
8,863
Reads
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27
Citations
Current institution
University of the Balearic Islands
Current position
  • PhD Student
Additional affiliations
February 2014 - September 2014
Centre for Genomic Regulation
Position
  • Research Assistant
Description
  • 3D Image processing and segmentation. Comparative analysis of mutant and wildtype Apert syndrome mouse model. Characterization of gene expression patterns with OPT and geometric morphometrics.
January 2010 - February 2011
Polytechnic University of Catalonia
Position
  • Research Assistant
Description
  • Clustering and image processing algorithms.

Publications

Publications (15)
Article
Full-text available
Cancer arises from the complex interplay of various factors. Traditionally, the identification of driver genes focuses primarily on the analysis of somatic mutations. We describe a new method for the detection of driver gene pairs based on an epistasis analysis that considers both germline and somatic variations. Specifically, the identification of...
Article
Full-text available
Objective In 2006, an age estimation method was proposed utilizing Bayesian inference to interpret age‐progressive changes in the acetabulum. This was accompanied by the IDADE2 software to facilitate calculations. However, the MS‐DOS operating system on which the software was based became obsolete. The main goal of this article is to present the ne...
Article
Full-text available
The earliest developmental origins of dysmorphologies are poorly understood in many congenital diseases. They often remain elusive because the first signs of genetic misregulation may initiate as subtle changes in gene expression, which are hard to detect and can be obscured later in development by secondary effects. Here, we develop a method to tr...
Article
Full-text available
The earliest developmental origins of dysmorphologies are poorly understood in many congenital diseases. They often remain elusive because the first signs of genetic misregulation may initiate as subtle changes in gene expression, which can be obscured later in development due to secondary phenotypic effects. We here develop a method to trace back...
Poster
Altered Fgf/Fgfr gene expression patterns affect early limb development in Apert syndrome
Poster
Full-text available
Recent advances in next generation sequencing (NGS) have provided such a huge amount of data that is even beyond the analysis capacity of the scientific community. Therefore, it has become a necessity, the development of new bioinformatic tools for the detection of genetic variants associated with many genetic disorders. An important factor in this...
Poster
Full-text available
Objetivos Los avances en la secuenciación masiva de genomas están proporcionando una cantidad ingente de datos que la comunidad científica no puede procesar. Son necesarias nuevas herramientas para el análisis y descubrimiento de nuevas variantes implicadas en el desarrollo de enfermedades genéticas. Un factor fundamental en este análisis, es la di...
Poster
Apert syndrome is a rare congenital disorder characterized by cranial, neural, limb and visceral malformations. Over 98% of Apert cases are caused by two FGFR2 mutations, Ser252Trp and Pro253Arg, which alter the ligand-binding specificity of the receptors. Patients carrying the P253R mutation show more severe limb malformations, such as syndactyly...

Questions

Questions (4)
Question
Hi again.
I have the following problem:
Let say  I have two random variables X, Y, discrete, each with three possible values, a,b and c.
I would like to test if in a sample of 500 objects, the two values X and Y are independent in a special way:
H_0:  Pr(X=x ^ Y=y) <= Pr(X=x) Pr(Y=y)  for each x,y = a,b,c
I use as a statistic s(T') the one in the chi squared test but in the contingency table T' of 9 cells, I add the discrepancy only if Observed_ij > Expected_ij.
In order to calculate p-values, I calculate the distribution of s(T') over a million random tables, each with the same marginal frequencies of T'.
To do so, I generate a random permutation of the values of X on the  500 objects, and another random vector with the frequencies of Y,
calculate the contingency table T' and s(T'), over a million T'
Then, the distribution of s(T') is used to calculate p-values.
But I realize that the null hypothesis H'_0 for the Montecarlo procedure is  that X and Y are independent which  is not exactly what I need.
Fortunately, for a fixed r, the number of times that there is a T' where  s(T') >= r, when H'_0: Pr(X=x ^ Y=y) = Pr(X=x) Pr(Y=y), is greater than
the number of times that there is a T' where s(T') >= r, when H_0: Pr(X=x ^ Y=y) <= Pr(X=x) Pr(Y=y), because, intuitively,  in H_0 there are more chances that the table have more cells with Observed <= Expected, that are not counted in the sum for s(T').  
Therefore, Pr(s(T')>=r | H'_0) >= Pr(s(T') >= r | H_0).
So, if I have a table T, and I calculate s(T) = r, I know that if Pr(s(T')>=r | H'_0) <= \alpha  then  Pr(s(T') >= r | H_0) <= \alpha.
Therefore, the Montecarlo distribution of s(T) under H'_0 is useful for rejecting H_0 for T. However, it is conservative.
Is this procedure correct? How can it be done better?
Thanks in advance, again.
Question
I have a list of genes (and their interactions) and I would like to see how these genes are located in a specific network.
I would appreciate any help!
Thanks.
Question
I have two discrete variables with three values each, A,B, and C for one, and D,E, and F, for the other (for around 500 objects).
I am only interested to reject independence in three cells of the nine cells in the table,(A,D),(A,E), (B,D).
So I have three null hypothesis:
H_AD :  Pr(AD) <= Pr(A) P(D)
H_AE :  Pr(AE) <= Pr(A) P(E)
H_BD :  Pr(BD) <= Pr(B) P(D)
which also say that for those cells, the observed values are lower or equal than the expected values according to the marginals. If the null hypothesis can be rejected, then we have that, on at least of those cells, the observed counts are greater than the expected, with some confidence.
So what I do is to use the usual chi squared test, but instead of adding over all 9 cells, I sum over only 3 cells and only if the
observation counts are above the expected ones. Then, I calculate the p-value using the chi squared distribution (one tail) with 4 degrees of freedom since all table cells still affect the answer.
Is it correct?
Question
I have a small dataset (N=400 samples). And I want to apply Fisher exact test because I my contingency table has a lot of 0s but I have read that Fisher Exact test is only for N≤90 so I returned to Chi2-test but I read that the chi-square test is performed only if at least 80% of the cells have an expected frequency of 5 or greater, and no cell has an expected frequency smaller than 1.0, which is not my case.
Which test do I have to use?
Any response might be fine!
Thanks in advance.

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