This week in PLoS Genetics, investigators at Stanford University present "a novel synthetic human reference sequence that is ethnically concordant," which they used to analyze "genomes from a nuclear family with history of familial thrombophilia." With such a reference, the team inferred recombination sites within the pedigree "to the lowest median resolution demonstrated to date — fewer than 1,000 base pairs," used family inheritance statistical analysis "to control sequencing error and inform family-wide haplotype phasing," and developed a "sequence-based methodology for Human Leukocyte Antigen typing that contributes to disease risk prediction."
The Wall Street Journal notes that "also listed as co-authors [are] John and Anne West, a father and daughter who were researching their own genetic make-up at home in Silicon Valley and met the Stanford team in the process. The research is part of scientists' continuing quest to extract truly useful information from the genome, a person's complete genetic code." (In April 2010, John West and his family were the first to have has their genomes sequenced for non-medical reasons.)
The WSJ adds that "this is the second time a paper has been published about a family's whole genome," and that some researchers on the study "ended up starting a biotech company called Personalis to offer analysis of whole-genome sequencing, initially to researchers." John West is CEO of that company.
Our sister publication GenomeWeb Daily News has more on this study.