Systematic Cell-Based Phenotyping of Missense Alleles.
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DOI: 10.1007/978-1-4939-6960-9_17
Abstract: Sequencing of the protein-coding genome, the exome, has proven powerful to unravel links between genetic variation and disease for both Mendelian and complex conditions. Importantly, however, the increasing number of sequenced human exomes and mapping… read more here.
Keywords: missense alleles; rare low; cell based; missense ... See more keywords
The impact of rare and low-frequency genetic variants in common disease
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DOI: 10.1186/s13059-017-1212-4
Abstract: Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for. Advances in sequencing technology enable focused explorations on the contribution of low-frequency… read more here.
Keywords: impact rare; genetic variants; frequency genetic; rare low ... See more keywords