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Genomes Go All in the Family, in the Literature (Again)

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.

The Scan

Pig Organ Transplants Considered

The Wall Street Journal reports that the US Food and Drug Administration may soon allow clinical trials that involve transplanting pig organs into humans.

'Poo-Bank' Proposal

Harvard Medical School researchers suggest people should bank stool samples when they are young to transplant when they later develop age-related diseases.

Spurred to Develop Again

New Scientist reports that researchers may have uncovered why about 60 percent of in vitro fertilization embryos stop developing.

Science Papers Examine Breast Milk Cell Populations, Cerebral Cortex Cellular Diversity, Micronesia Population History

In Science this week: unique cell populations found within breast milk, 100 transcriptionally distinct cell populations uncovered in the cerebral cortex, and more.