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\"Since the early 2000s, genealogy has become a lucrative business, an accelerating online industry, a massive data mining project, and fodder for reality television. But the fact remains that our contemporary fascination with family history cannot be understood independently of the powerful technological tools that aid and abet in the search for traces of blood, belonging, and difference. In The Genealogical Sublime, Julia Creet traces the histories of the largest, longest-running, most lucrative, and most rapidly growing genealogical databases to delineate a broader history of the industry. As each unique case study reveals, new database and DNA technologies enable an obsessive completeness-the desire to gather all of the world's genealogical records in the interests of life beyond death. Archival research and firsthand interviews with Church of Jesus Christ of Latter-Day Saints officials, key industry players (including Ancestry.com founders and FamilySearch executives), and professional and amateur family historians round out this timely and essential study.\"-- Provided by publisher.

Scientists are using consumer-genomics databases to link living people to ancestors from the recent and not-so-recent past. But the meaning of these connections isn’t always clear. Scientists are using consumer-genomics databases to link living people to ancestors from the recent and not-so-recent past. But the meaning of these connections isn’t always clear.

Enzyme recruitment is a fundamental evolutionary driver of modern metabolism. We see evidence of recruitment at work in the metabolic Molecular Ancestry Networks (MANET) database, an online resource that integrates data from KEGG, SCOP and structural phylogenomic reconstruction. The database, which was introduced in 2006, traces the deep history of the structural domains of enzymes in metabolic pathways. Here we release version 3.0 of MANET, which updates data from KEGG and SCOP, links enzyme and PDB information with PDBsum, and traces evolutionary information of domains defined at fold family level of SCOP classification in metabolic subnetwork diagrams. Compared to SCOP folds used in the previous versions, fold families are cohesive units of functional similarity that are highly conserved at sequence level and offer a 10-fold increase of data entries. We surveyed enzymatic, functional and catalytic site distributions among superkingdoms showing that ancient enzymatic innovations followed a biphasic temporal pattern of diversification typical of module innovation. We grouped enzymatic activities of MANET into a hierarchical system of subnetworks and mesonetworks matching KEGG classification. The evolutionary growth of these modules of metabolic activity was studied using bipartite networks and their one-mode projections at enzyme, subnetwork and mesonetwork levels of organization. Evolving metabolic networks revealed patterns of enzyme sharing that transcended mesonetwork boundaries and supported the patchwork model of metabolic evolution. We also explored the scale-freeness, randomness and small-world properties of evolving networks as possible organizing principles of network growth and diversification. The network structure shows an increase in hierarchical modularity and scale-free behavior as metabolic networks unfold in evolutionary time. Remarkably, this evolutionary constraint on structure was stronger at lower levels of metabolic organization. Evolving metabolic structure reveals a 'principle of granularity', an evolutionary increase of the cohesiveness of lower-level parts of a hierarchical system. MANET is available at http://manet.illinois.edu.

A landmark genomic study raises the possibility that many more people could find links to distant ancestors through genetic analysis. A landmark genomic study raises the possibility that many more people could find links to distant ancestors through genetic analysis. Facial reconstruction of enslaved African Americans who worked at Catoctin Furnace in the late 1700's or early 1800's, a teenage boy, 15 or 16 years old and a women in her 30's are seen at the Smithsonian Museum of Natural History March 12, 2020 in Washington, DC. Skeletal remains of these two people, along with 33 others, were excavated in 1979 when the construction of U.S. Route 15 near Thurmont unearthed a previously unknown slave cemetery near Catoctin Furnace. Credit: Getty/Washington Post

A comprehensive pedigree, usually provided by the counselee and verified by medical records, is essential for risk assessment in cancer genetic counseling. Collecting the relevant information is time-consuming and sometimes impossible. We studied the use of electronically ascertained pedigrees (EGP). The study group comprised women (n = 1352) receiving HBOC genetic counseling between December 2006 and December 2016 at Landspitali in Iceland. EGP’s were ascertained using information from the population-based Genealogy Database and Icelandic Cancer Registry. The likelihood of being positive for the Icelandic founder BRCA2 pathogenic variant NM_000059.3:c.767_771delCAAAT was calculated using the risk assessment program Boadicea. We used this unique data to estimate the optimal size of pedigrees, e.g., those that best balance the accuracy of risk assessment using Boadicea and cost of ascertainment. Sub-groups of randomly selected 104 positive and 105 negative women for the founder BRCA2 PV were formed and Receiver Operating Characteristics curves compared for efficiency of PV prediction with a Boadicea score. The optimal pedigree size included 3° relatives or up to five generations with an average no. of 53.8 individuals (range 9–220) (AUC 0.801). Adding 4° relatives did not improve the outcome. Pedigrees including 3° relatives are difficult and sometimes impossible to generate with conventional methods. Pedigrees ascertained with data from pre-existing genealogy databases and cancer registries can save effort and contain more information than traditional pedigrees. Genetic services should consider generating EGP’s which requires access to an accurate genealogy database and cancer registry. Local data protection laws and regulations have to be addressed.

Background Tartary buckwheat ( Fagopyrum tataricum ) is an important food and medicine crop plant, which has been cultivated for 4000 years. A nuclear genome has been generated for this species, while an intraspecific pan-plastome has yet to be produced. As such a detailed understanding of the maternal genealogy of Tartary buckwheat has not been thoroughly investigated. Results In this study, we de novo assembled 513 complete plastomes of Fagopyrum and compared with 8 complete plastomes of Fagopyrum downloaded from the NCBI database to construct a pan-plastome for F. tartaricum and resolve genomic variation. The complete plastomes of the 513 newly assembled Fagopyrum plastome sizes ranged from 159,253 bp to 159,576 bp with total GC contents ranged from 37.76 to 37.97%. These plastomes all maintained the typical quadripartite structure, consisting of a pair of inverted repeat regions (IRA and IRB) separated by a large single copy region (LSC) and a small single copy region (SSC). Although the structure and gene content of the Fagopyrum plastomes are conserved, numerous nucleotide variations were detected from which population structure could be resolved. The nucleotide variants were most abundant in the non-coding regions of the genome and of those the intergenic regions had the most. Mutational hotspots were primarily found in the LSC regions. The complete 521 Fagopyrum plastomes were divided into five genetic clusters, among which 509 Tartary buckwheat plastomes were divided into three genetic clusters (Ft-I/Ft-II/Ft-III). The genetic diversity in the Tartary buckwheat genetic clusters was the greatest in Ft-III, and the genetic distance between Ft-I and Ft-II was the largest. Based on the results of population structure and genetic diversity analysis, Ft-III was further subdivided into three subgroups Ft-IIIa, Ft-IIIb, and Ft-IIIc. Divergence time estimation indicated that the genera Fagopyrum and Rheum (rhubarb) shared a common ancestor about 48 million years ago (mya) and that intraspecies divergence in Tartary buckwheat began around 0.42 mya. Conclusions The resolution of pan-plastome diversity in Tartary buckwheat provides an important resource for future projects such as marker-assisted breeding and germplasm preservation.

Background Mainstreaming genetic medicine, increased media coverage and clinical trials for BRCA mutation carriers are leading oncologists into more patient discussions about BRCA genetic testing. BRCA variants of uncertain significance (VUS) occur in 10–20 % of tests. VUS detection introduces additional uncertainty for patient and potentially clinician. We aimed to explore the ability of breast cancer specialists (BCS) in the UK to correctly respond to a VUS report. Methods A survey sent to 800 UK BCS collected demographics data, VUS general knowledge and interpretation and communication based on two genetics reports. A separate survey of UK clinical geneticists collected demographics data, laboratory reporting practice and methods used to clarify VUS pathogenicity including classification systems. Results Of the 155 BCS (22.5 %) who completed the survey, 12 % reported no genetics training. Ninety five percent referred patients for BRCA genetic tests, 71 % felt unsure about the clinical implications of the test reports presented here. A VUS report from a patient with a positive family history was interpreted and theoretically communicated correctly by 94 % but when presented with a different VUS report with no management guidance and negative family history, 39 % did not know how to communicate this result to the patient. Geneticists reported multiple VUS classification systems; the most commonly used was word-based in 32 %. Conclusions A consistent and standardised format to report particularly VUS results across all diagnostic laboratories plus additional training of UK BCS will be necessary for effective mainstreaming of BRCA testing to the oncology clinic.

In the United States, medical devices are regulated and subject to review by the Food and Drug Administration (FDA) before they can be marketed. Low-to-medium risk novel medical devices can be reviewed under the De Novo umbrella before they can proceed to market, and this process can be fairly cumbersome, expensive, and time-consuming. An alternate faster and less-expensive pathway to going to market is the 510(k) pathway. In this approach, if the device can be shown to be substantially equivalent in safety and effectiveness to a pre-existing FDA-approved marketed device (or \"predicates\"), it can be cleared to market. Due to the possibility of daisy-chaining predicate devices, it can very quickly be difficult to unravel the logic and justification of how a particular medical device's equivalence was established. From patients' perspective, this minimizes transparency in the process. From a vendor perspective, it can be difficult to determine the right predicate that applies to their device. We map the connectivity of various predicates in the medical device field by applying text mining and natural language processing (NLP) techniques on data publicly made available by the FDA 78000 device summaries were scraped from the US FDA 510(k) database, and a total of 2,721 devices cleared by the 510(k) regulatory pathway in 2020 were used as a specific case study to map the genealogy of medical devices cleared by the FDA. Cosine similarity was used to gauge the degree of substantial equivalence between two medical devices by evaluating their device descriptions and indications for use. Recalls and complaints for predicate devices were extracted from the FDA's Total Product Life Cycle database using html scraping and web page optical character recognition to determine the similarity between class 1 recalled devices (the most severe form of device recall) and other substantially equivalent devices. A specific product code was used to illustrate the mapping of the genealogy from a De Novo device. The ancestral tree for the medical devices cleared in 2020 is vast and sparse, with a large number of devices having only 1-2 predicates. Evaluation of substantial equivalence data from 2003-2020 shows that the standard for substantial equivalence has not changed significantly. Studying the recalls and complaints, shows that the insulin infusion pump had the highest number of complaints, yet none of the recalled devices bore significant degree of text similarity to currently marketed devices. The mapping from the De Novo device case study was used to develop an ancestry map from the recalled predicate (recalled due to design flaws) to current substantially equivalent products in the market. Besides enabling a better understanding of the risks and benefits of the 510(k) process, mapping of connectivity of various predicates could help increase consumer confidence in the medical devices that are currently in the marketplace.

This study of the genealogy and biotech company Ancestry analyzes the ways in which the organization has evolved over the past few years. Ancestry is difficult to categorize as a corporate entity. The company trades in servicing both “traditional” types of history (genealogical records) and, more recently, biotech-based investigation through the use of DNA sequencing. Ancestry is highly influential in the way that millions of people around the world access the past. Given this, the company’s shifts in focus are of great interest. Through considering various new elements of the way that Ancestry functions, and illustrating that this complexity is foundational to its purpose, the article suggests the company is redefining what a public historian or public historical institution might be, adding a scientific dimension to historical data and also acting to present a particular model of the past through its advertising campaigns. The article suggests that public history’s models for considering such protean organizations are in need of attention, and the complexity of such a company demonstrates new challenges and opportunities for scholars in the field.

This paper explores the Polish Jew journal as a pivotal second-tier record for advancing Holocaust studies and Jewish genealogy. Traditionally underutilized in academic research, this periodical provides a unique repository of names and narratives of Holocaust victims, filling crucial gaps in primary record collections. The investigation centers on the journal’s potential not only to contribute names to existing databases of Holocaust victims—many of whom are still unrecorded—but also to enhance genealogical methods through the integration of network analysis. By examining Polish Jew, this study illustrates how second-tier records can extend beyond mere supplements to primary data, acting instead as vital tools for reconstructing complex social and familial networks disrupted by the Holocaust. The paper proposes a methodological framework combining traditional genealogical research with modern network analysis techniques to deepen our understanding of Jewish community dynamics during and after World War II. This approach not only aids in identifying individual victims and survivors but also in visualizing the broader interactions within Jewish diaspora communities. This research underscores the significance of Polish Jew in the broader context of Holocaust remembrance. It offers a novel pathway for the future of Jewish genealogical research, advocating for the strategic use of second-tier records in scholarly investigations.