Balancing openness with Indigenous data sovereignty: An opportunity to leave no one behind in the journey to sequence all of life
AM Mc Cartney, J Anderson, L Liggins… - Proceedings of the …, 2022 - National Acad Sciences
The field of genomics has benefited greatly from its “openness” approach to data sharing.
However, with the increasing volume of sequence information being created and stored and …
However, with the increasing volume of sequence information being created and stored and …
[HTML][HTML] Bioinformatic Challenges detecting genetic variation in precision medicine programs
MA Field - Frontiers in Medicine, 2022 - frontiersin.org
Precision medicine programs to identify clinically relevant genetic variation have been
revolutionized by access to increasingly affordable high-throughput sequencing (HTS) …
revolutionized by access to increasingly affordable high-throughput sequencing (HTS) …
[PDF][PDF] Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
AM Elliott, S Adam, C du Souich, A Lehman… - Human Genetics and …, 2022 - cell.com
Genome-wide sequencing (GWS) is a standard of care for diagnosis of suspected genetic
disorders, but the proportion of patients found to have pathogenic or likely pathogenic …
disorders, but the proportion of patients found to have pathogenic or likely pathogenic …
Federated learning and Indigenous genomic data sovereignty
Indigenous peoples are under-represented in genomic datasets, which can lead to limited
accuracy and utility of machine learning models in precision health. While open data sharing …
accuracy and utility of machine learning models in precision health. While open data sharing …
Return of results policies for genomic research: current practices and the Hearts in Rhythm Organization (HiRO) approach
Research teams developing biobanks and/or genomic databases must develop policies for
the disclosure and reporting of potentially actionable genomic results to research …
the disclosure and reporting of potentially actionable genomic results to research …
Evaluation of vicinity-based hidden Markov models for genotype imputation
Background The decreasing cost of DNA sequencing has led to a great increase in our
knowledge about genetic variation. While population-scale projects bring important insight …
knowledge about genetic variation. While population-scale projects bring important insight …
Frontiers of bio-decolonization: indigenous data sovereignty as a possible model for community-based participatory genomic health research for racialized peoples in …
AA Valiani - Genealogy, 2022 - mdpi.com
This paper explores the manners in which Indigenous and allied non-Indigenous
researchers, medical directors, and knowledge-keepers (among others) extend the ethical …
researchers, medical directors, and knowledge-keepers (among others) extend the ethical …
[PDF][PDF] Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?
PS Appelbaum, W Burke, E Parens, DA Zeevi… - The American Journal of …, 2022 - cell.com
The underrepresentation of non-European ancestry groups in current genomic databases
complicates interpretation of their genetic test results, yielding a much higher prevalence of …
complicates interpretation of their genetic test results, yielding a much higher prevalence of …
A Tale of Native American Whole-Genome Sequencing and Other Technologies
I Aguilar-Ordoñez, J Guzmán-Linares… - Diversity, 2022 - mdpi.com
Indigenous people from the American continent, or Native Americans, are underrepresented
in the collective genomic knowledge. A minimal percentage of individuals in international …
in the collective genomic knowledge. A minimal percentage of individuals in international …
An exploration of Aotearoa New Zealanders' attitudes and perceptions on the use of posthumous healthcare data
J Cornwall, S English, B Woodford… - The New Zealand …, 2022 - search.proquest.com
AIM: Posthumous electronic healthcare data (PHCD) are ubiquitous and increasing in
volume. Despite their potential utility and value, no empirically-derived, publicly-generated …
volume. Despite their potential utility and value, no empirically-derived, publicly-generated …