Initial analyses of available vertebrate genome

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Unformatted text preview: ed as a powerful tool for identifying functionally important genomic elements. Initial analyses of available vertebrate genome sequences7,11,19 have revealed many previously undiscovered protein-coding sequences. Mammal-tomammal sequence comparisons have revealed large numbers of homologies in non-coding regions11, few of which can be defined in functional terms. Further comparisons of sequences derived from multiple species, especially those occupying distinct evolutionary positions, will lead to significant refinements in our understanding of the functional importance of conserved sequences20. Thus, the generation of additional genome sequences from several well-chosen species is crucial to the functional characterization of the human genome (Box 1). The generation of such large sequence data sets will benefit from further advances in sequencing technology that yield significant cost reductions (Box 2). The study of sequence variation within species will also be important in defining the functional nature of some sequences (see Grand Challenge I-3). BOX 2 Technology development T h e H u m a n G e n o m e P ro j e c t w a s a i d e d b y s e v e r a l ‘ b r e a k t h ro u g h ’ t e c h n olo gi c a l d e v e lo p m e nt s , in c lu d in g S a n g er D N A s e q u e n c in g a n d it s a ut o m a tio n , D N A - b a s e d g e n e ti c m a r k e r s , l a rg e - i n s e r t c l...
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