Sentences with phrase «role of human genetic variation»

«Thus, it is clear that further studies must investigate an increasingly complex matrix of cell types and conditions to fully understand the role of human genetic variation in disease.»

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Lead researcher Professor Vardhman Rakyan from QMUL said: «The fact that genetic variation of ribosomal DNA seems to play such a major role suggests that many human genetics studies could be missing a key part of the puzzle.

With the completion of the first phase of the Human Genome Project in 2000, and the advent of sequencing technologies that can detect gene variations such as single nucleotide polymorphisms (SNPs), for the first time scientists have the tools in hand to find the key immune genes and genetic networks that play roles in vaccine response.

Through his role in the UM Center for Genome Technology, part of the Miller School of Medicine, Dr. Hedges is actively involved in the incorporation of novel genomic technologies into the process of searching for the genetic variation underlying human disease risk.

This study of human genetic variation and its relationship to health and disease involves a large number of study participants and will capture not only common single nucleotide variations but also rare copy number and structural variants that are increasingly thought to play an important role in complex disease.

His research focuses on the use of genomic approaches to uncover the functional impact of human genetic variation, and especially its role in causing severe Mendelian diseases.

His research focuses on understanding the role of genetic variation in contributing to human health and disease using mouse models of human disease, and more recently exploiting technologies developed for biomedical research for application in the field of genetic pest management.

His work focusses on the application of contemporary genomic technologies to detect genetic variation and evaluate its role in human disease.