Gene inactivation and its implications for annotation in the era of personal genomics.
Ontology highlight
ABSTRACT:
SUBMITTER: Balasubramanian S
PROVIDER: S-EPMC3012931 | biostudies-literature | 2011 Jan
REPOSITORIES: biostudies-literature
Publications
Gene inactivation and its implications for annotation in the era of personal genomics.
Balasubramanian Suganthi S Habegger Lukas L Frankish Adam A MacArthur Daniel G DG Harte Rachel R Tyler-Smith Chris C Harrow Jennifer J Gerstein Mark M
Genes & development 20110101 1
The first wave of personal genomes documents how no single individual genome contains the full complement of functional genes. Here, we describe the extent of variation in gene and pseudogene numbers between individuals arising from inactivation events such as premature termination or aberrant splicing due to single-nucleotide polymorphisms. This highlights the inadequacy of the current reference sequence and gene set. We present a proposal to define a reference gene set that will remain stable ...[more]
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