Stanford University Research: Atacama Humanoid Still A Mystery
Steven M. Greer MD
22 April 2013
there is a link in there to the actual paper, which reads...
Over 560 million paired end sequence reads passed automated quality control filters and provided an estimate 19.6X coverage for the whole genome. Approximately 509million (~91%) reads were mapped to the human reference genome hg19 (providing a 17.7 fold coverage of the genome). The presence of ~9% “unmatched” DNA should not be interpreted to represent anything unusual about the specimen itself. Reasons for the lack of match can include artefacts generated during library preparation, low quality reads from the instrument, or insufficient data to allow computational alignment against the human reference standard. Further, since this sample is likely to be at the least a few decade olds, and possibly older, DNA degradation resulting in apparently “false” mutations can occur. For instance, degradation of cytosine © via deamination to uracil (U) would result in false interpretation of a C residue as thymidine (T) and a resulting guanine (G) misread as adenine (A) on the opposite strand.
Reconstruction of the mitochondrial DNA sequence and analysis shows an allele frequency consistent with a B2 haplotype group found on the west coast of South America, supporting the claimed origination of the specimen from the Atacama Desert region of Chile. Sequence analysis definitively rules out the specimen as an example of a New World primate.
Preliminary results demonstrate no statistically relevant alterations of genes encoding proteins commonly associated with known genes for primordial dwarfism or other forms of dwarfism. Therefore, if there is a genetic basis for the symptoms observed in the specimen the casual mutation(s) are not apparent at this level of resolution and at this stage of the analysis. As the current list of human disorders is far from complete and many human disorders are polygenic, there might remain to be found a combination of mutations working in concert that lead to the observed defect(s).