JGI committed to sequencing chromosomes 5, 16, and 19 - or 11 percent of the human genome - 16 years ago. The sequence of chromosome 19 was published in April, and that of chromosome 5 was published in September.
According to the Nature paper, chromosome 16 comprises 78.9 million base pairs and features one of the highest levels of segmentally duplicated sequence among the human autosomes. The authors manually annotated 880 protein-coding genes on the chromosome, which were confirmed by 1,670 aligned transcripts, 19 transfer RNA genes, 341 pseudogenes, and three RNA pseudogenes.
Genes on chromosome 16 include the metallothionein, cadherin, and iroquois gene families, as well as those implicated in the development of breast and prostate cancer, Crohn's disease, and adult polycystic kidney disease. In addition, several large-scale structural polymorphisms spanning hundreds of kilobase pairs were identified.
JGI said that its genomics efforts will continue via the Community Sequencing Program, which will serve as a sequencing resource for a range of disciplines, with priority "given to sequencing organisms that are relevant to DOE missions."
JGI said that its Production Genomics Facility is now generating sequence at a rate of 2.5 billion bases per month, or the equivalent of a human genome in just five weeks.