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RNA polymerase III is highly specialized for the production of short non-coding RNAs. This Progress article discusses the implications of recent ChIP–seq studies that reveal unprecedented genome-wide detail and unanticipated complexities of RNA polymerase III transcription, including tissue-specific transcriptional regulation and intriguing parallels to RNA polymerase II.
Linkage studies have identified the genetic basis of several Mendelian disorders, but in recent years this method has been superseded by association mapping. The unique advantages of linkage studies support the combined use of linkage and association designs for identifying new genetic variants related to human traits.
Increasing evidence indicates that non-genetic information, as well as DNA sequence, is transmitted across generations to influence evolution. The authors review the evidence for different modes of non-genetic inheritance and discuss how they can be accounted for in evolutionary studies.
Cancer-genome sequencing is producing vast amounts of information on genetic alterations in tumours, but how can researchers uncover those changes that influence tumorigenesis? This Review describes how large-scale functional-genomics approaches using an increasing range of sophisticated tools offer a way forward.
The authors describe the best practices for a growing number of methods that use next-generation sequencing to rapidly discover and assess genetic markers across any genome, with applications from population genomics and quantitative trait locus mapping to marker-assisted selection.
Direct-to-consumer (DTC) genetic tests allow individuals to learn about their health or that of their future offspring. Should we protect individuals from potentially misleading genetic information about themselves or should we assume that adults who seek DTC services can interpret the genetic findings even without the intervention of a health professional? We present five different perspectives on whether DTC genetic tests should be regulated and, if so, how.