Evolutionary diagnosis method for variants in personal exomes

Using the plurality of codon positions to identify deleterious variants in human exomes

MOTIVATION A codon position could perform different or multiple roles in alternative transcripts of a gene. For instance, a non-synonymous position in one transcript could be a synonymous site in another. Alternatively, a position could remain as non-synonymous in multiple transcripts. Here we examined the impact of codon position plurality on the frequency of deleterious single-nucleotide vari...

Exomes for we but not for thee

1 (http://www.hhs.gov/ocr/privacy/hipaa/understanding/special/CLIA/index.html; http://www.ncbi.nlm.nih.gov/pubmed/25255365). Author's note: I have written this anonymously because I do not want harm to come to those who helped me get my results. It is my hope that my travails will call attention to the fact that patient access to what one has a right to know about oneself is not necessarily str...

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Establishing the age of eachmutation segregating in contemporary human populations is important to fully understand our evolutionary history and will help to facilitate the development of new approaches for disease-gene discovery. Large-scale surveys of human genetic variation have reported signatures of recent explosive population growth, notable for an excess of rare genetic variants, suggest...

A Method of Constructing Personal Network for Ubiquitous Personal Services

Exomes, Proteins, and Cardiovascular Disease

The postgenomic era has simultaneously provided huge opportunities and major challenges in the translation of the wealth of genetic information to improve our diagnostic and therapeutic approach to disease. Although many might agree that genome-wide association studies have not met expectations in their ability to capture the full genetic architecture of many medical conditions, there is hope t...