Human Genome Variation Society, Washington DC, United States
2nd November 2010
A satellite meeting to the American Society of Human Genetics. The advent of “Next Generation Sequencing" technologies in the last 5 years has resulted in a massive expansion of sequence that needs to be analyzed. A major goal of these experiments is to identify polymorphisms and new mutations. A critical challenge is to determine which genetic variants are pathogenic, which are neutral, and which may have intermediate effects. This task is becoming more urgent as whole genome sequencing becomes more accessible to investigators. This meeting will feature the efforts that are underway to try to classify all classes of variants- those that are found in coding regions and alter protein sequence, those that affect splicing, gene expression, and copy number, or those that occur at a distance from the disease-associated gene.
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