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Detailed clinical data and family history were necessary for matching genetic data with the phenotype.
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As a result of this distribution of lineages in Sardinia, there is a high degree of gene diversity (0.801±0.010) (see Table 3) and significant evidence of differentiation from all the other groups for which matched genetic data are available (FST values and their P values are shown in Tables S2 and S3).
It includes links to matched genetic data.
However, detailed clinical, histological and molecular data were necessary for the confirmation steps, i.e., matching the genetic data with the phenotype.
Based on 37 measurements--ranging from the length of the cranium to the height of the eye sockets--the team reports this week in Nature that the worldwide pattern of skull shapes closely matches the genetic data: The diversity of cranial shape within a population falls off the farther it is from Africa.
We combined tumour mutation data from the Cancer Genome Atlas with matched patient genetic data, and tested for germline variants that associate with somatic mutation of the EGFR pathway (including EGFR, KRAS, BRAF, PTEN and PIK3CA).
Principal-component and STRUCTURE-like analyses confirmed substantial genetic diversity both within and between populations, and revealed a match between genetic data and linguistic affiliation.
Extracting meaning from genetic data — matching mutations with certain diseases, for example — requires tertiary analysis.
Our strategy does not require the knowledge of detailed clinical data for proposing candidate mutations; however, this knowledge is necessary for the final validation of the diagnosis that can only be performed matching both clinical and genetic data.
As a result, researchers found that their genetic data matched historical events and periods.
In the archaic serial founder model, some level of migration between neighboring populations might enable the model to make predictions that more closely match observations from human genetic data.
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