• Non ci sono risultati.

These results shed optimism on the expectance to get reliable data also from the other half of the samples

N/A
N/A
Protected

Academic year: 2021

Condividi "These results shed optimism on the expectance to get reliable data also from the other half of the samples"

Copied!
3
0
0

Testo completo

(1)

69 5. PERSPECTIVES

The present thesis could not have ended with a “Conclusion”, because one half of the data requested to satisfy the scientific design is still yet to come. Consequently, the results and discussions reported so far must be intended as preliminary and their reliability limited to the reduced amount of data already processed.

This short chapter is therefore intended to provide a balance of the work achieved so far and a perspective on the step to be done as soon as the dataset will be complete.

Concerning the sequencing quality, the 99.25% accuracy for SNPs called by both SEQ and HapMap datasets encountered for the first half of the data, confirm once again the great advantages in using the new generation sequencing techniques, like the Illumina flow-cell platform. This great accuracy is indeed paired with very fast times of sequencing (around two weeks for one run) and reduced costs compared to the traditional Sanger capillary sequencing. These results shed optimism on the expectance to get reliable data also from the other half of the samples.

However these data also illustrate the challenges associated with the new sequencing technologies. The short reads generated can make read mapping and variant calling difficult and lead to systematic errors that must be carefully filtered out. Further work would be required to detect the optimal parameters for SNPs calling in this dataset.

Once obtained, beside the standard procedures to assess the quality controls parameters and SNPs calling, it will be possible to:

- Calculate summary statistics on a sufficient number of samples (minimum 28 chr for Kubachians);

(2)

70 - Increase the number of NR SNPs positions to be investigated (the number of SNPs

being correlated with the dimension of the analyzed samples);

- Compare the summary statistics between the Daghestani and control population to investigate the presence of demographic events or selective sweeps;

- Through selecting different sizes of windows across the studied regions, it will be possible to narrow down the origin of a selective sweep, therefore characterizing the mutation underling such signal;

- Compare the data obtained for the Hominid and Encode Regions with the data available online for the other worldwide population, to further investigate the demographic history of the studied population;

- Build a reliable Network (Bandelt, Forster et al. 1999) with the new haplotypes containing all the SNPs positions pooled from the two halves of the study, to show how the studied populations are related one each other.

- Decide whether the NS SNPs found so far, together with the ones that will rise from the second half of the samples can be considered as the product of a positive selection towards the adaptation to a hypoxic environment. Those SNPs could hence be exploited for some follow up studies, to increase the current knowledge of the oxygen metabolism pathways, related illnesses and possible cures.

(3)

71

6. ACKNOWLEDGEMENTS

The present study was performed at the Human Evolution Team (Team19) with the kind help of the Sequencing Technology Development Team (Team51) of the Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton,UK on samples belonging to the Laboratory of Molecular Anthropology, Department of Biology, University of Pisa, Italy in collaboration with the Russian Academy of Sciences and to the Kidd Labs, Department of Genetics, Yale University School of Medicine.

The funding for my stay in Cambridge was very kindly provided by the European Union through the Life Long Learning Erasmus Project and by the Scuola Normale Superiore of Pisa, Italy through its Placement Service and Science Class.

It is therefore a pleasure for me to thank all the members of the above specified institutions and teams who made possible this great human experience and, hopefully, valuable scientific achievements.

Particularly, I would like to thank:

Chris Tyler-Smith, Daniel MacArthur, Qasim Ayub, Yali Xue, Bryndis Yngvadottir, Sergio Tofanelli, Giorgio Paoli, Silvia Marracci, Kazima Bulayeva, Yuan Chen, Iwanka Kozarewa for their vital help and practical support regarding scientific design, data production and elaboration, proof reading, strategic advices and problem solving;

Elisabetta Terzuoli, Elisa Guidi, Caroline Yates and Carol Smee for their help in solving all the bureaucratic issues that would have, otherwise, prevented me to spend my Erasmus and working experience in Cambridge;

The Daghestani people who kindly donated their blood to shed light on the demographic and evolutionary history of their ethnic groups.

Riferimenti

Documenti correlati

This result strongly suggests that we are observing discrete shifts from part-time to full-time work, as conjectured by Zabalza et al 1980 and Baker and Benjamin 1999, rather

Impact between rigid bodies (*) (*) having a rotation, an angular vel, etc.  So far, we only considered collision between particles (no rotation, no

if s/he gives birth to other ten. Women are given a contraceptive implant at the time of their first menstruation, sex is conceived as an act of lust, and pregnancy occurs

This paper contributes to the existing discussion on thermal storage systems by developing a “pilot- scale” finned and tube phase change material storage to support

Gli ambienti di servizio a NE dell’area sacra (I-II, V-VI) vengono abbandonati e crollano tra la fine del II e la prima metà del III, ma in età severiana si ha un

By adopting a similarity network approach on a comprehen- sive set of environmental sequences, we revealed the absence of an overall distance effect in the level of sequence

However, unlike Wang ’s report, we have treated our patients for their SLE activity, and not for the recurrence of the thrombotic events; interestingly, we have successfully applied

The ambient air temperature (Ta), the brine temperature at the borehole number 1 and 3 outlet (Tbrine,1 and Tbrine,3) and the average power specific extraction rate of the