Here are some useful links for our work on human genome annotation as part of the Personal Genome Project.
Personal Genome Project. This is the home page for the Personal Genome Project.
OMIM. Online Mendelian Inheritance in Man is a text-based database of human inherited disorders and the genes associated with them.
PolyPhen-2. This is a database and tool for assessing the impact of missense mutations in human genes.
dbSNP. This is a database of single nucleotide polymorphisms (SNPs) in the human genome.
ACMG Recommendations on Incidental Findings. This is a report describing the genetic conditions that are recommended to be reported to patients undergoing exome or whole-genome sequencing. There is an example of applying this list to the genome of PGP89 in the Open Human Genome blog.
Newborn Screening Conditions. This is a list of genes associated with inborn errors of metabolism that are currently identified by screening the blood of newborns and other methods, typically not by exome or whole-genome sequencing at this time.
List of OMIM Disease Codes at Wikipedia.