scholarly journals Exploring Genetic Data Across Individuals Using Novel Comparative Report Tools (Preprint)

2018 ◽  
Author(s):  
Lauren Westendorf ◽  
Orit Shaer ◽  
Christina Pollalis ◽  
Clarissa Verish ◽  
Oded Nov ◽  
...  
Keyword(s):  
Family Members ◽  
Genomic Data ◽  
Genetic Data ◽  
Personal Genomics ◽  
Genomic Information ◽  
Genetic Characteristics ◽  
Personal Genomic ◽  
The Third ◽  
User Comprehension ◽  
Compare And Contrast

BACKGROUND The growth in the availability of personal genomic data to non-experts poses multiple challenges to Human-Computer Interaction (HCI) research: data are highly sensitive, complex, and have health implications for individuals and families. However, there has been little research on how non-expert users explore genomic data. Studies that investigated the information practices of personal genomic data users found that non-experts seek to contextualize and compare their personal data to others. The family-relevant nature of genetic data highlights the need for tools to enable non-experts to explore not only their own data, but to compare and contrast it with the data of others. OBJECTIVE We designed CrossGenomics, a novel tool for comparing personal genetic reports, which enables exploration of shared and unshared genetic variants among individuals. Focusing on communicating comparative impact, rarity, and certainty, we evaluated alternative novel interactive prototypes of this tool. In particular, we sought to: 1. asses to what extent are users able to comprehend both intra-individual and inter-individual information, and whether there are gaps between subjective and objective comprehension; 2. understand how people engage with a comparison tool for personal genomics, and what visualization type and features are most helpful for comprehension; 3. identify the needs of early adopters, people who share their genetic reports publicly, for comparing their genetic reports to others’. METHODS We conducted three online user studies. The first two studies employed a controlled experimental design to examine the effectiveness of different design interventions on user comprehension. In both studies, we applied between-subjects design with alternative views for comparing the personal genomic information of fictional family members. Participants were Amazon Mechanical Turk workers. Building on the two initial studies, the third user study evaluated a redesigned version of CrossGenomics 2.0, which combines multiple views. We recruited 49 participants, who are members of Open Humans and shared their genomic information publicly. Participants used the tool to compare their own personal genomic report to the report of four famous people. RESULTS Results from the first two studies highlight strengths of two visualization types and of particular features in enabling user comprehension of genomic data, and demonstrate the value of affording users the flexibility to examine the same report using multiple perspectives. Results from the third study emphasize users’ motivation and needs in comparison of genomic data. CONCLUSIONS The familial nature of personal genomic data highlights the need for tools to enable non-experts to explore not only their own data, but to compare and contrast their data with data of other biological family members, who share common genetic characteristics. The design and evaluation of CrossGenomics offer important insights into the design of future tools for personal genomics exploration and comparison.

scholarly journals Genomics Education in the Era of Personal Genomics: Academic, Professional, and Public Considerations

2020 ◽  
Vol 21 (3) ◽  
pp. 768 ◽  
Author(s):  
Kiara V. Whitley ◽  
Josie A. Tueller ◽  
K. Scott Weber
Keyword(s):  
Ethical Issues ◽  
Modern Science ◽  
Genome Project ◽  
Genomic Sequencing ◽  
Personal Genomics ◽  
Genomic Information ◽  
Personal Genomic ◽  
The Public ◽  
Biological Studies ◽  
Genomics Education

Since the completion of the Human Genome Project in 2003, genomic sequencing has become a prominent tool used by diverse disciplines in modern science. In the past 20 years, the cost of genomic sequencing has decreased exponentially, making it affordable and accessible. Bioinformatic and biological studies have produced significant scientific breakthroughs using the wealth of genomic information now available. Alongside the scientific benefit of genomics, companies offer direct-to-consumer genetic testing which provide health, trait, and ancestry information to the public. A key area that must be addressed is education about what conclusions can be made from this genomic information and integrating genomic education with foundational genetic principles already taught in academic settings. The promise of personal genomics providing disease treatment is exciting, but many challenges remain to validate genomic predictions and diagnostic correlations. Ethical and societal concerns must also be addressed regarding how personal genomic information is used. This genomics revolution provides a powerful opportunity to educate students, clinicians, and the public on scientific and ethical issues in a personal way to increase learning. In this review, we discuss the influence of personal genomics in society and focus on the importance and benefits of genomics education in the classroom, clinics, and the public and explore the potential consequences of personal genomic education.

scholarly journals Investigating the persistence of accuracy of genomic predictions over time in broilers

2021 ◽  
Author(s):  
Jorge Hidalgo ◽  
Daniela Lourenco ◽  
Shogo Tsuruta ◽  
Yutaka Masuda ◽  
Vivian Breen ◽  
...  
Keyword(s):  
Second Generation ◽  
Genomic Data ◽  
Third Generation ◽  
Genomic Information ◽  
Training Population ◽  
The Third ◽  
Three Generations ◽  
One Year ◽  
Over Time ◽  
Genomic Predictions

Abstract Accuracy of genomic predictions is an important component of the selection response. The objectives of this research were: 1) to investigate trends for prediction accuracies over time in a broiler population of accumulated phenotypes, genotypes, and pedigrees; 2) to test if data from distant generations are useful to maintain prediction accuracies in selection candidates. The data contained 820K phenotypes for a growth trait (GT), 200K for two feed efficiency traits (FE1 and FE2), and 42K for a carcass yield trait (CY). The pedigree included 1,252,619 birds hatched over seven years, of which 154,318 from the last four years were genotyped. Training populations were constructed adding one year of data sequentially, persistency of accuracy over time was evaluated using predictions from birds hatched in the three generations following or in the years after the training populations. In the first generation, before genotypes became available for the training populations (first three years of data), accuracies remained almost stable with successive additions of phenotypes and pedigree to the accumulated dataset. The inclusion of one year of genotypes in addition to four years of phenotypes and pedigree in the training population led to increases in accuracy of 54% for GT, 76% for FE1, 110% for CY, and 38% for FE2; on average, 74% of the increase was due to genomics. Prediction accuracies declined faster without than with genomic information in the training populations. When genotypes were unavailable, the average decline in prediction accuracy across traits was 41% from the first to the second generation of validation, and 51% from the second to the third generation of validation. When genotypes were available, the average decline across traits was 14% from the first to the second generation of validation, and 3% from the second to the third generation of validation. Prediction accuracies in the last three generations were the same when the training population included five or two years of data, and a decrease of ~7% was observed when the training population included only one year of data. Training sets including genomic information provided an increase in accuracy and persistence of genomic predictions compared to training sets without genomic data. The two most recent years of pedigree, phenotypic and genomic data were sufficient to maintain prediction accuracies in selection candidates. Similar conclusions were obtained using validation populations per year.

Introduction

2018 ◽  
Author(s):  
Tim Lewens
Keyword(s):  
Social Sciences ◽  
Human Nature ◽  
Potential Functions ◽  
Human Psychology ◽  
Human Culture ◽  
The Third ◽  
Current State ◽  
Large Numbers ◽  
The Social ◽  
Compare And Contrast

Many evolutionary theorists have enthusiastically embraced human nature, but large numbers of evolutionists have also rejected it. It is also important to recognize the nuanced views on human nature that come from the side of the social sciences. This introduction provides an overview of the current state of the human nature debate, from the anti-essentialist consensus to the possibility of a Gray’s Anatomy of human psychology. Three potential functions for the notion of species nature are identified. The first is diagnostic, assigning an organism to the correct species. The second is species-comparative, allowing us to compare and contrast different species. The third function is contrastive, establishing human nature as a foil for human culture. The Introduction concludes with a brief synopsis of each chapter.

THALASSEMIA-HEMOGLOBIN C DISEASE IN WHITE SIBLINGS

PEDIATRICS ◽  
1956 ◽  
Vol 17 (5) ◽  
pp. 740-746
Author(s):  
Marion Erlandson ◽  
Carl H. Smith ◽  
Irving Schulman
Keyword(s):  
Blood Smear ◽  
Family Members ◽  
Microcytic Anemia ◽  
Target Cells ◽  
The Third ◽  
Hemoglobin C ◽  
Large Numbers

Two white sisters of Italian parentage in whom thalassemia-hemoglobin C disease was found, have been presented. This is the third report of such cases and the first in white individuals. This disease produces a microcytic anemia which is usually mild but which may be severe. Splenomegaly may or may not be present. The presence of large numbers of both microspherocytes and target cells in the blood smear should suggest the possibility of this diagnosis. Confirmatory evidence is found in studies of the blood of family members.

scholarly journals 42 Genetic differentiation of Russian goats and wild relatives based on microsatellite loci

2020 ◽  
Vol 98 (Supplement_4) ◽  
pp. 19-20
Author(s):  
Marina I Selionova ◽  
Magomet M Aibazov ◽  
Tatyana V Mamontova ◽  
Sergey N Petrov ◽  
Veronica R Kharzinova ◽  
...  
Keyword(s):  
Genetic Distances ◽  
Wild Relatives ◽  
Hybrid Zones ◽  
Sample Collection ◽  
North Caucasus ◽  
Genetic Characteristics ◽  
The Third ◽  
The North ◽  
Central Caucasus ◽  
Capra Aegagrus

Abstract Goat breeding is a traditional livestock industry for many regions of Russia. Due to unpretentiousness and high adaptive qualities, the Karachai, Dagestan wool and Dagestan down breeds are widespread in the North Caucasus. Moreover, their uniqueness is determined by sharing a common habitat with their wild relatives, West Caucasian and Dagestani turs, thus forming hybrid zones. The aim of the research was to study allele pool and interbreed differentiation of domestic goat breeds and wild relatives by microsatellites. Research was performed based on 16 loci on the ABI 3130xl analyzer. Population genetic characteristics were calculated in GenAlEx 6.5, and the phylogenetic tree was constructed in Populations 1.2.30 and SplitsTree 4.14.5. The sample collection included goat breeds (n = 226): Karachai (KRCH), Dagestan down (DAGD), Dagestan wool (DAGW) (North Caucasus), Soviet wool (SOVW) (Siberia), Orenburg (OREN) (South Ural), and wild goats (n = 72). Wild goats comprised mountain goats: Siberian goats (Capra sibirica) from the Altai, Tajikistan, Kyrgyzstan and the Himalayas; bezoar goats (Capra aegagrus) from Turkey and Pakistan; and tur (Capra caucasica) from the West Caucasus (Kuban), Central Caucasus, and East Caucasus (Dagestan). The Karachai breed was characterized by the highest level of genetic diversity: the average number of alleles per locus (NA) and allelic richness (AR) were 9,154 and 7,713, respectively, while these indices varied from 6,538 to 7,538 and from 6,425 to 7,538 (Table 1) in other breeds, respectively. The values of genetic distances showed differentiation of Karachai, Dagestan down and Dagestan wool breeds from Orenburg and Soviet wool breeds (Table 2). The formation of three clusters was established. The first one included subspecies of the Caucasian tur, the second one comprised Siberian goats, and the third contained domestic goats. Bezoar goats were in the root of the third cluster that confirmed their participation as an ancestral form of domestic goats.

scholarly journals Maciej Ziemierski, Testamenty krakowskiej rodziny Królików z XVII w.

2020 ◽  
Vol 26 ◽  
pp. 11-41
Author(s):  
Maciej Ziemierski
Keyword(s):  
18Th Century ◽  
Family Members ◽  
17Th Century ◽  
16Th Century ◽  
Fourth Generation ◽  
Third Generation ◽  
The Third ◽  
The Family ◽  
The Town ◽  
Distinguished Member

17th century testaments of the Królik family from Krakow The article is dedicated to the Królik family from Krakow, who lived in the town from the late 16th century until the first years of the 18th century. The family members initially worked as tailors, later reinforcing the group of Krakow merchants in the third generation (Maciej Królik). Wojciech Królik – from the fourth generation – was a miner in Olkusz. The text omits the most distinguished member of the family, Wojciech’s oldest brother, the Krakow councillor Mikołaj Królik, whose figure has been covered in a separate work. The work shows the complicated religious relations in the family of non-Catholics, initially highly engaged in the life of the Krakow Congregation, but whose members gradually converted from Evangelism to Catholicism. As a result, Wojciech Królik and his siblings became Catholics. This work is complemented by four testaments of family members, with the first, Jakub Królik’s, being written in 1626 and the last one, Wojciech Królik’s, written in 1691.

scholarly journals Cattle production: PR China and Republic of Serbia

2012 ◽  
Vol 28 (4) ◽  
pp. 635-648 ◽  
Author(s):  
S. Aleksic ◽  
S Sunfang ◽  
Z. Jingming ◽  
Q. Meiyu ◽  
W. Jiabo ◽  
...  
Keyword(s):  
Beef Cattle ◽  
Inner Mongolia ◽  
Current Situation ◽  
Total Production ◽  
Cattle Production ◽  
Cattle Breeding ◽  
Cattle Industry ◽  
Genetic Characteristics ◽  
Chinese Holstein ◽  
The Third

The paper presents data on the cattle industry in the People's Republic of China and the Republic of Serbia. China is the third largest dairy producing country and the third largest beef producing country in the world. In 2011, the dairy cow population in China was 14.4 million. Chinese dairy breed is mainly obtained by grading hybridization from Holstein, Simmental, etc. which were introduced from foreign countries, and local cattle breeds for long time to form the offspring with stable genetic characteristics. Currently, the dairy breeds cultured in China mainly include Chinese Holstein, Chinese Simmental, dairy buffalo, Brown cattle, Sanhe cattle, etc. Chinese Holstein accounts for about 80% of the total dairy cattle. From 2000 to 2007, Chinese beef production has always been in a rapid growth phase, with an increase from 5.054 million tons to 6.134 million tons, reached a historical highest level of 6.355 million tons in 2009, but rapidly declined since 2009, and dropped to 5 million tons in 2011. In addition, the amounts of reproduction cow and beef cattle in stock were also declined. In 2011, there were about 32.7 million beef cattle slaughtered, and the beef cattle population was about 80 million at the end of 2011, the beef carcass yield was about 5.5 million tons, the national average carcass weight was 201.5kg/cow, and the production value of beef cattle was about 200.75 billion Yuan. Currently, the amount of reproduction cow in stock declined sharply; the contradiction between the lack of cattle resource and the continued growth of beef consumption is more and more serious. Chinese dairy farming is mainly concentrated in the North, Northeast and Northwest of China, the dairy cows population in Inner Mongolia, Xinjiang, Heilongjiang and Hebei account for 60% of the total population in China; the beef cattle is mainly concentrated in rural areas as Henan, Shandong and Hebei provinces, accounting for 80% of the national amount of slaughtered beef cattle. In recent years, the superior regions of beef cattle breeding have been gradually shifted towards north and southwest. The beef cattle industry in Heilongjiang Province, Sichuan Province, Yunnan Province and Guizhou Province has been developed rapidly. The beef cattle breeding in pastoral areas are mainly concentrated in Inner Mongolia, Xinjiang and Gansu province. Cattle production is important branch of livestock production in Republic of Serbia. Current situation in cattle production is not satisfactory in regard to the production per head and number of heads which has been constantly decreasing in recent years. Based on official statistical data, current situation in cattle production is considered as unfavourable (Bureau of Statistics of Republic of Serbia). Number of cattle in 2011 was 936.000 heads and constantly decreasing over the last 11 years. In this period, number of cattle is reduced by 18%, and number of cows and pregnant heifers by 14%. Data on number and categories of cattle also indicate considerable reduction, so category of cattle at the age of 1 to 2 years has been reduced by 24.5%, and number of calves by 29.2%. Production of cow milk is relatively steady. In 2011 milk production was 1.434.000liters. This can be explained by increased production of milk per cow. Genetic progress in milk traits was achieved by utilization of progeny tested bulls on milk and increased scope of artificial insemination of cows and heifers. Production of meat is in constant decrease which is consequence of reduction of total number of cattle as well as insufficient number of slaughterhouses with EU certificate. Meat production in 2011 was 81.000 t. Our country, although without developed cattle breeding, has been traditional exporter of beef, meat products and fattening young cattle into many countries, even the most developed ones, for instance Italy and Greece. Export of beef was in expansion prior to Italy (1974) and Greece (1980) entering the EEC. For instance, in year 1974, we exported 50.500 t/annually on Italian market, i.e. in 1980 51.310 t and there were 24 registered slaughterhouses with EEC certificate. Today, there are only a few slaughterhouses with EU certificate, and approved export quota of close to 8.000 t of beef we cannot realize. Total production of milk is 1,434.000 l. Cattle production is expected to provide high quality products for export, primarily beef and quality cheeses with defined origin and quality.

scholarly journals From symptomatic to pre-symptomatic patient: the tide of personal genomics

2011 ◽  
Vol 10 (03) ◽  
pp. C03
Author(s):  
Marina Levina ◽  
Roswell Quinn
Keyword(s):  
Human Subjects ◽  
Genomic Data ◽  
Symptomatic Patient ◽  
Privacy Rights ◽  
Personal Genomics ◽  
Direct To Consumer ◽  
Marketing Social ◽  
Genomics Research ◽  
Definition Of ◽  
Consumer Marketing

Personal Genomics Companies are an emerging form of biotechnology startup that bring rapidly advancing whole genome technologies to a variety of commercial venues. With a combination of direct-to-consumer marketing, social media, and Web 2.0 applications these companies seek to create novel uses, including entertainment, for what is described as predictive medicine – that is the use of genetic marketers to create health forecasts that would allow individual’s healthcare to be tailored to their individual genomic data. In this brief piece, the authors use a critical cultural approach to question how this combination of genomics research, marketing, and communications technologies may alter both patient experiences and research processes. In it we argue these companies radically expand the definition of a patient by claiming all consumers are simply pre-symptomatic patients. Moreover, by placing genomic data on both the marketplace and cyberspace, personal genomic companies seek to create new avenues of research that alter how we define (and access) research agendas and human subjects. Therefore, beyond commonly discussed issues of ethics and privacy rights, Personal Genomics has the potential to alter both healthcare priorities and distribution.

scholarly journals The distributions of the six species constituting the smooth newt species complex (Lissotriton vulgaris sensu lato and L. montandoni) – an addition to the New Atlas of Amphibians and Reptiles of Europe

2018 ◽  
Vol 39 (2) ◽  
pp. 252-259 ◽  
Author(s):  
Ben Wielstra ◽  
Daniele Canestrelli ◽  
Milena Cvijanović ◽  
Mathieu Denoël ◽  
Anna Fijarczyk ◽  
...  
Keyword(s):  
Species Complex ◽  
Genomic Data ◽  
Genetic Data ◽  
Sister Species ◽  
Contact Zones ◽  
Distribution Maps ◽  
Smooth Newt ◽  
Lissotriton Vulgaris ◽  
Constituent Species ◽  
Distribution Ranges

Abstract The ‘smooth newt’, the taxon traditionally referred to as Lissotriton vulgaris, consists of multiple morphologically distinct taxa. Given the uncertainty concerning the validity and rank of these taxa, L. vulgaris sensu lato has often been treated as a single, polytypic species. A recent study, driven by genetic data, proposed to recognize five species, L. graecus, L. kosswigi, L. lantzi, L. schmidtleri and a more restricted L. vulgaris. The Carpathian newt L. montandoni was confirmed to be a closely related sister species. We propose to refer to this collective of six Lissotriton species as the smooth newt or Lissotriton vulgaris species complex. Guided by comprehensive genomic data from throughout the range of the smooth newt species complex we 1) delineate the distribution ranges, 2) provide a distribution database, and 3) produce distribution maps according to the format of the New Atlas of Amphibians and Reptiles of Europe, for the six constituent species. This allows us to 4) highlight regions where more research is needed to determine the position of contact zones.

Attitudes towards Personal Genomics and Sharing of Genetic Data among Older Swiss Adults: A Qualitative Study

2017 ◽  
Vol 20 (5) ◽  
pp. 293-306 ◽  
Author(s):  
Laura  Mählmann ◽  
Sebastian Schee gen. Halfmann ◽  
Agnes von Wyl ◽  
Angela Brand
Keyword(s):  
Qualitative Study ◽  
Genetic Data ◽  
Personal Genomics
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