Etiqueta: #AnnuRevGenomicsHumGenet
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Genetic Bases of Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures in two or more body areas resulting from reduced or absent fetal movements. AMC exhibits marked phenotypic and genetic heterogeneity, as it is a symptom rather t…
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A Personal Retrospective on the US Department of Energy Contribution to the Human Genome Project
In this article, I recount and reflect on the US Department of Energy’s contributions to sequence the human genome as part of the Human Genome Project.
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Breast Cancer: Genetic Risk Assessment, Diagnostics, and Therapeutics in African Populations
Breast cancer is a major public health burden that disproportionately affects women of African descent. Substantial progress has been made in understanding the genetic and biological drivers of breast cancer worldwide. However, this knowledge is uneven…
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Indigenous Data Sovereignty in Genomics and Human Genetics: Genomic Equity and Justice for Indigenous Peoples
As the field of genomics and human genetics continues to push our understanding of disease and biodiversity through an ever-increasing pool of genomic data, it is critical to consider the social, ethical, and legal implications of using such data. This…