NIG International symposium 2017, Commemorating the 30th Anniversary of DDBJ was held in Mishima Citizens Cultual Hall in shizuoka, Japan. On the third day of the symposium (29 May), oral sessions were held.
In this talk, Frank Eisenhaber makes a presentation entitled "No end in sight for gene function discovery: How long will it take to understand the human genome and what can be learned from the GAA1/GPAA1 function discovery story?". (37:23)
All presentations are listed in the YouTube list.
Despite dramatic technical progress in genome and transcriptome sequencing, the ability to link changes in human sequences with phenotypic outcomes is severely limited. After the enthusiastic era of first full genome sequencing that started with a few bacteria and yeast in the middle of the nineties and culminated in the first human genome draft, the expectations with regards to cures of not yet treatable diseases or to new biotechnologies have not been fulfilled even nearly to the extent as the original hype might have promised. Whereas the impact is dramatic in cases where biomolecular mechanisms are known, little progress even over several decades in the future should be expected where this is not the case. Except for few cases of clear statistical links between certain genomic aberrations and phenotypic properties, genotypes can be linked to phenotypes only via the explanation level of biomolecular mechanisms the knowledge of which is currently fragmentary at best. It is most urgent to discover or augment function description for > 10000 non- or poorly characterized human genes. The key to understanding biomolecular sequences is via function prediction from protein sequences. The plethora of methods for structure and function prediction from protein sequence integrated in BII's ANNOTATOR environment is reviewed. A new software GUI, the human protein mutation viewer, is useful for mapping mutations onto sequence architectural features and for delineating possible mechanistic implications. Examples of function discovery for GPI lipid anchor biosynthesis pathway's transamidase subunit genes pig-T and Gpaa1 as well as some others are presented.
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