Category Archives: Paper review

Gabe Rudy

Exaggerating your number of controls or being precise? “Variant not found in over 10,000 chromosomes from EVS…”

Reading through the last release of AJHG I saw a couple papers mention that the putative rare variant they were investigating was “not present in over 10,000 control chromosomes from the EVS”. My first reaction was, “What? Do they mean … Continue reading

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Summary and Q&A: “A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans”

The common disease-common variant hypothesis has established the foundation of SNP-basis genome-wide association studies for the last several years. However, with few strong associations found, researchers are beginning to consider the effects of rare variants through the burgeoning availability of … Continue reading

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