Unearthing who and Y at Harewood Cemetery and inference of George Washington's Y-chromosomal haplotype.

An excavation conducted at Harewood Cemetery to identify the unmarked grave of Samuel Washington resulted in the discovery of burials presumably belonging to George Washington's paternal grandnephews and their mother, Lucy Payne. To confirm their identities this study examined Y-chromosomal, mitochondrial, and autosomal DNA from the burials and a living Washington descendant. The burial's Y-STR profile was compared to FamilyTreeDNA's database, which resulted in a one-step difference from the living descendant and an exact match to another Washington. A more complete Y-STR and Y-SNP profile from the descendant was inferred to be the Washington Y profile. Kinship comparisons performed in relation to the descendant, who is a 4th and 5th degree relative of the putative individuals, resulted in >37,000 overlapping autosomal SNPs and strong statistical support with likelihood ratios exceeding one billion. This study highlights the benefits of a multi-marker approach for kinship prediction and DNA-assisted identification of historical remains.

Genomic analyses of hair from Ludwig van Beethoven.

Ludwig van Beethoven (1770-1827) remains among the most influential and popular classical music composers. Health problems significantly impacted his career as a composer and pianist, including progressive hearing loss, recurring gastrointestinal complaints, and liver disease. In 1802, Beethoven requested that following his death, his disease be described and made public. Medical biographers have since proposed numerous hypotheses, including many substantially heritable conditions. Here we attempt a genomic analysis of Beethoven in order to elucidate potential underlying genetic and infectious causes of his illnesses. We incorporated improvements in ancient DNA methods into existing protocols for ancient hair samples, enabling the sequencing of high-coverage genomes from small quantities of historical hair. We analyzed eight independently sourced locks of hair attributed to Beethoven, five of which originated from a single European male. We deemed these matching samples to be almost certainly authentic and sequenced Beethoven's genome to 24-fold genomic coverage. Although we could not identify a genetic explanation for Beethoven's hearing disorder or gastrointestinal problems, we found that Beethoven had a genetic predisposition for liver disease. Metagenomic analyses revealed furthermore that Beethoven had a hepatitis B infection during at least the months prior to his death. Together with the genetic predisposition and his broadly accepted alcohol consumption, these present plausible explanations for Beethoven's severe liver disease, which culminated in his death. Unexpectedly, an analysis of Y chromosomes sequenced from five living members of the Van Beethoven patrilineage revealed the occurrence of an extra-pair paternity event in Ludwig van Beethoven's patrilineal ancestry.

Implementation of recommendations in the diagnosis of vesicoureteric reflux after urinary tract infections in Swiss children.

BACKGROUND: Efforts are now routinely made for early detection of vesicoureteric reflux after urinary tract infections in order to limit secondary renal damage. METHODS: The age at diagnosis of reflux after urinary tract infections was analysed in 162 Swiss patients (46 boys and 116 girls) referred by primary care physicians to the Division of Paediatric Nephrology, University of Bern, Switzerland between 1978 and 1999. The figures noted in Switzerland were also compared with those noted in 102 Australian patients (35 boys and 67 girls) reported by Lenaghan in 1976. RESULTS: In Switzerland the median age at diagnosis was 23 months in 74 subjects diagnosed between 1978 and 1988 and 10 months in 88 subjects diagnosed between 1989 and 1999. The difference was statistically significant in girls but not in boys. In Australia the median age at diagnosis was 15 months for boys and 78 months for girls; in Switzerland, the corresponding figures were 12 and 29 months (between 1978 and 1988), respectively 5 and 14 months (between 1989 and 1999). The difference between Australia and Switzerland was statistically significant in girls but not in boys. CONCLUSIONS: In Switzerland vesicoureteric reflux is now detected earlier than in the past. This trend is more marked in girls than in boys but the detection of reflux is still earlier in boys than in girls.