Forensic facial reconstruction/approximation of JB55's appearance (age 55). Known tooth-loss & inferred health issues informed the reconstruction. Hair style was selected based on styles worn in the 19th century. Skin, hair & eye color based on phenotype predictions. Credit: Parabon
If any kids dressed as vampires come to your door tonight requesting candy, they probably won’t look like the 19th century “vampire” in this reconstruction.
But, thanks to whole-genome targeting and machine learning models, we now have a better idea of what the “vampire” formerly known as JB55 may have looked like in his day.
And while the kid next door may come over with pale skin, red eyes and “blood” around her mouth, JB55 looked better than that—at least when he was healthy and not suffering from the debilitating effects of tuberculosis, which happens to have the same physical “attributes” commonly given to vampires.
‘Vampirism’
In the 1800s, when tuberculosis and other serious diseases were not well-understand, communities hit with epidemics sometimes turned to folklore for explanations—vampirism being one of them. In order to prevent “vampires” from being reborn, the vital organs of the decedent were often burned, or the skull was separated from the body during burial.
Thus, it wasn’t all that surprising in 1990 when the remains of a middle-aged man were found rearranged inside his coffin in a “skull and crossbones” orientation. A modern-day analysis of the remains showed evidence of chronic lung infection, most likely tuberculosis.
The man’s coffin was marked with “JB55,” likely indicating his name and age at death.
In 2019, AFDIL performed a Y-STR analysis that suggested a possible surname of Barber. At the time, Parabon NanoLabs and AFDIL targeted about 95,000 single nucleotide polymorphisms (SNPs) for direct kinship comparisons. A search of historical records led to an obituary for another individual buried in the same cemetery that mentioned a man named John Barber, but no other records were found.
Whole genome targeting
In a new study that builds on that previous data, forensic scientists at Parabon NanoLabs tested three different DNA analysis approaches, hoping to confirm JB55’s identify and generate phenotypic traits that would provide an idea of what he looked like in life.
The researchers tested shotgun sequencing, whole genome targeting, and the targeting of about 850,000 custom SNPs. According to the study, the two targeted techniques performed approximately the same, while both significantly outperformed shotgun sequencing. The team determined whole-genome targeting was the most cost-effective for this case.
In traditional genome sequencing work, scientists work to sequence each piece of the human genome 30 times. However, in this case, the highly degraded 19th-century bone was unable to yield that much.
“With this historical bone sample, even with targeting, each sequencing run only yielded about 2.5x coverage. Therefore, low-coverage imputation was applied to create one SNP profile that could be used for genetic genealogy, kinship inference, ancestry, and phenotype prediction,” the Parabon researchers explained in their paper. Low-coverage imputation uses information from thousands of sequenced genomes to statistically infer the most likely genotype at each SNP.
Using machine learning models built on published variants, as well as proprietary technology, Parabon researchers predicted JB55 to have:
- Very fair/fair skin (92.2% confidence)
- Brown/hazel eyes (99.8% confidence)
- Brown/black hair (97.7% confidence)
- Few/some freckles (50.0% confidence)
Using these phenotypic trait predictions and a digital 3D image of the skull, Thom Shaw, an IAI-certified forensic artist at Parabon, reconstructed JB55’s likely appearance—as pictured above.
Another individual unearthed in the Connecticut cemetery was believed to be a relative of JB55. So, the research team extracted and analyzed his DNA, as well. Although the sample was of much lower quality and only yielded 0.68x coverage, kinship analysis showed a 3rd-degree (1st cousin) relationship to JB55.
“Both data files were successfully uploaded to the GEDmatch database, demonstrating that the high-quality genome-wide data needed for investigative genetic genealogy can be generated from highly degraded bones using these laboratory and bioinformatics protocols,” conclude the researchers.
Tracing the family trees of the GEDmatch matches led the researchers to ancestors with the surname Barber living in New England in the 18th and 19th centuries, supporting the hypothesis that the “vampire” is most likely John Barber, who died of tuberculous at 55 years old.