Understanding non-coding variation (or as they call Tier 2 variation) is important…
Understanding non-coding variation (or as they call Tier 2 variation) is important but still a hard nut to crack.
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Tier 2: Searching for Functional Noncoding Variation
Next-gen sequencing has fundamentally changed the study of human, plant, and animal genetics. For many phenotypes, and inherited diseases in particular, developments in hybridization capture and sequencing technologies have enabled astonishing progress in identifying the variants underlying genetic disorders. Indeed, last year saw dozens of Mendelian diseases solved and numerous cancer types surveyed by exome sequencing.
The authors of some publi…