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Annual Review of Genomics and Human Genetics

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https://www.readbyqxmd.com/read/29751732/population-screening-for-hemoglobinopathies
#1
H W Goonasekera, C S Paththinige, V H W Dissanayake
Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases...
May 11, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29727585/tales-of-human-migration-admixture-and-selection-in-africa
#2
Carina M Schlebusch, Mattias Jakobsson
In the last three decades, genetic studies have played an increasingly important role in exploring human history. They have helped to conclusively establish that anatomically modern humans first appeared in Africa roughly 250,000-350,000 years before present and subsequently migrated to other parts of the world. The history of humans in Africa is complex and includes demographic events that influenced patterns of genetic variation across the continent. Through genetic studies, it has become evident that deep African population history is captured by relationships among African hunter-gatherers, as the world's deepest population divergences occur among these groups, and that the deepest population divergence dates to 300,000 years before present...
May 4, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29727584/single-cell-multi-omics-technologies
#3
Lia Chappell, Andrew J C Russell, Thierry Voet
Single-cell multiomics technologies typically measure multiple types of molecule from the same individual cell, enabling more profound biological insight than can be inferred by analyzing each molecular layer from separate cells. These single-cell multiomics technologies can reveal cellular heterogeneity at multiple molecular layers within a population of cells and reveal how this variation is coupled or uncoupled between the captured omic layers. The data sets generated by these techniques have the potential to enable a deeper understanding of the key biological processes and mechanisms driving cellular heterogeneity and how they are linked with normal development and aging as well as disease etiology...
May 4, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29709204/ancient-human-genomics-the-first-decade
#4
Pontus Skoglund, Iain Mathieson
The first decade of ancient genomics has revolutionized the study of human prehistory and evolution. We review new insights based on prehistoric human genomes, including greatly increased resolution of the timing and structure of the out-of-Africa event, the diversification of present-day non- African populations, and the earliest expansions of those populations into Eurasia and America. Prehistoric genomes now document patterns of population transformation on every inhabited continent-in particular the effect of agricultural expansions in Africa, Europe, and Oceania-and record a history of natural selection that shapes present-day phenotypic diversity...
April 25, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29709203/cystic-fibrosis-disease-modifiers-complex-genetics-defines-the-phenotypic-diversity-in-a-monogenic-disease
#5
Wanda K O'Neal, Michael R Knowles
In many respects, genetic studies in cystic fibrosis (CF) serve as a paradigm for a human Mendelian genetic success story. From recognition of the condition as a heritable pathological entity to implementation of personalized treatments based on genetic findings, this multistep pathway of progress has focused on the genetic underpinnings of CF clinical disease. Along this path was the recognition that not all CFTR gene mutations produce the same disease and the recognition of the complex, multifactorial nature of CF genotype-phenotype relationships...
April 25, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29709202/inferring-causal-relationships-between-risk-factors-and-outcomes-from-genome-wide-association-study-data
#6
Stephen Burgess, Christopher N Foley, Verena Zuber
An observational correlation between a suspected risk factor and an outcome does not necessarily imply that interventions on levels of the risk factor will have a causal impact on the outcome (correlation is not causation). If genetic variants associated with the risk factor are also associated with the outcome, then this increases the plausibility that the risk factor is a causal determinant of the outcome. However, if the genetic variants in the analysis do not have a specific biological link to the risk factor, then causal claims can be spurious...
April 25, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29652519/drug-induced-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-call-for-optimum-patient-stratification-and-theranostics-via-pharmacogenomics
#7
Chonlaphat Sukasem, Theodora Katsila, Therdpong Tempark, George P Patrinos, Wasun Chantratita
The Global Genomic Medicine Collaborative, a multinational coalition of genomic and policy experts working to implement genomics in clinical care, considers pharmacogenomics to be among the first areas in genomic medicine that can provide guidance in routine clinical practice, by linking genetic variation and drug response. Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe life-threatening reactions to medications with a high incidence worldwide. Genomic screening prior to drug administration is a key opportunity and potential paradigm for using genomic medicine to reduce morbidity and mortality and ultimately eliminate one of the most devastating adverse drug reactions...
April 13, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29641912/using-full-genomic-information-to-predict-disease-breaking-down-the-barriers-between-complex-and-mendelian-diseases
#8
Daniel M Jordan, Ron Do
While sequence-based genetic tests have long been available for specific loci, especially for Mendelian disease, the rapidly falling costs of genome-wide genotyping arrays, whole-exome sequencing, and whole-genome sequencing are moving us toward a future where full genomic information might inform the prognosis and treatment of a variety of diseases, including complex disease. Similarly, the availability of large populations with full genomic information has enabled new insights about the etiology and genetic architecture of complex disease...
April 11, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29641911/sickle-cell-anemia-and-its-phenotypes
#9
Thomas N Williams, Swee Lay Thein
In the 100 years since sickle cell anemia (SCA) was first described in the medical literature, studies of its molecular and pathophysiological basis have been at the vanguard of scientific discovery. By contrast, the translation of such knowledge into treatments that improve the lives of those affected has been much too slow. Recent years, however, have seen major advances on several fronts. A more detailed understanding of the switch from fetal to adult hemoglobin and the identification of regulators such as BCL11A provide hope that these findings will be translated into genomic-based approaches to the therapeutic reactivation of hemoglobin F production in patients with SCA...
April 11, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29494256/from-a-single-child-to-uniform-newborn-screening-my-lucky-life-in-pediatric-medical-genetics
#10
R Rodney Howell
Mike, a memorable young patient with untreated phenylketonuria, as well as others affected by genetic disorders that could be treated if diagnosed in infancy, launched my six-decade career. This autobiographical article reflects on my childhood, early research, and professional experiences in pediatric genetics. My laboratory research focused on inborn errors of metabolism, including the glycogen storage diseases. My effort to organize newborn screening through the recommended uniform screening panel shaped and standardized newborn screening nationwide...
March 1, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29400986/the-genomic-commons
#11
Jorge L Contreras, Bartha M Knoppers
Over its 30 or so years of existence, the genomic commons-the worldwide collection of publicly accessible repositories of human and nonhuman genomic data-has enjoyed remarkable, perhaps unprecedented, success. Thanks to the rapid public data release policies initiated by the Human Genome Project, free access to a vast array of scientific data is now the norm, not only in genomics, but in scientific disciplines of all descriptions. And far from being a monolithic creation of bureaucratic fiat, the genomic commons is an exemplar of polycentric, multistakeholder governance...
January 25, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28859574/cognitive-dysfunctions-in-intellectual-disabilities-the-contributions-of-the-ras-mapk-and-pi3k-akt-mtor-pathways
#12
REVIEW
Sarah C Borrie, Hilde Brems, Eric Legius, Claudia Bagni
The Ras-MAPK and PI3K-AKT-mTOR signaling cascades were originally identified as cancer regulatory pathways but have now been demonstrated to be critical for synaptic plasticity and behavior. Neurodevelopmental disorders arising from mutations in these pathways exhibit related neurological phenotypes, including cognitive dysfunction, autism, and intellectual disability. The downstream targets of these pathways include regulation of transcription and protein synthesis. Other disorders that affect protein translation include fragile X syndrome (an important cause of syndromal autism), and other translational regulators are now also linked to autism...
August 31, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28859573/recent-advancements-in-dna-damage-transcription-crosstalk-and-high-resolution-mapping-of-dna-breaks
#13
REVIEW
Valerio Vitelli, Alessandro Galbiati, Fabio Iannelli, Fabio Pessina, Sheetal Sharma, Fabrizio d'Adda di Fagagna
Until recently, DNA damage arising from physiological DNA metabolism was considered a detrimental by-product for cells. However, an increasing amount of evidence has shown that DNA damage could have a positive role in transcription activation. In particular, DNA damage has been detected in transcriptional elements following different stimuli. These physiological DNA breaks are thought to be instrumental for the correct expression of genomic loci through different mechanisms. In this regard, although a plethora of methods are available to precisely map transcribed regions and transcription start sites, commonly used techniques for mapping DNA breaks lack sufficient resolution and sensitivity to draw a robust correlation between DNA damage generation and transcription...
August 31, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28859572/the-genetic-diversity-of-the-americas
#14
REVIEW
Kaustubh Adhikari, Juan Camilo Chacón-Duque, Javier Mendoza-Revilla, Macarena Fuentes-Guajardo, Andrés Ruiz-Linares
The history of the Americas involved the encounter of millions of Native Americans, Europeans, and Africans. A variable admixture of these three continental groups has taken place throughout the continent, influenced by demography and a range of social factors. This variable admixture has had a major influence on the genetic makeup of populations across the continent. Here, we summarize the demographic history of the region, highlight some social factors that affected historical admixture, and review major patterns of ancestry across the Western Hemisphere based on genetic data...
August 31, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28504904/application-of-panel-based-tests-for-inherited-risk-of-cancer
#15
REVIEW
Payal D Shah, Katherine L Nathanson
Next-generation or massively parallel sequencing has transformed the landscape of genetic testing for cancer susceptibility. Panel-based genetic tests evaluate multiple genes simultaneously and rapidly. Because these tests are frequently offered in clinical settings, understanding their clinical validity and utility is critical. When evaluating the inherited risk of breast and ovarian cancers, panel-based tests provide incremental benefit compared with BRCA1/2 genetic testing. For inherited risk of other cancers, such as colon cancer and pheochromocytoma-paraganglioma, the clinical utility and yield of panel-based testing are higher; in fact, simultaneous evaluation of multiple genes has been the historical standard for these diseases...
August 31, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28498723/advances-in-preimplantation-genetic-testing-for-monogenic-disease-and-aneuploidy
#16
REVIEW
Nathan R Treff, Rebekah S Zimmerman
Genetic testing of preimplantation embryos promises to prevent monogenic disease in children born to at-risk couples, the transfer of unbalanced embryos to patients carrying a balanced translocation, and the use of aneuploid embryos created during in vitro fertilization. Technologies have evolved from fluorescence in situ hybridization to next-generation-sequencing-based aneuploidy screening and allow for simultaneous testing of multiple genetic abnormalities in a single biopsy. The field has also shifted away from polar body or blastomere biopsy and toward trophectoderm biopsy as the new standard...
August 31, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28475368/tailoring-medulloblastoma-treatment-through-genomics-making-a-change-one-subgroup-at-a-time
#17
REVIEW
Borja L Holgado, Ana Guerreiro Stucklin, Livia Garzia, Craig Daniels, Michael D Taylor
After more than a decade of genomic studies in medulloblastoma, the time has come to capitalize on the knowledge gained and use it to directly improve patient care. Although metastatic and relapsed disease remain poorly understood, much has changed in how we define medulloblastoma, and it has become evident that with conventional therapies, specific groups of patients are currently under- or overtreated. In this review, we summarize the latest insights into medulloblastoma biology, focusing on how genomics is affecting patient stratification, informing preclinical studies of targeted therapies, and shaping the new generation of clinical trials...
August 31, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28460196/a-robust-framework-for-microbial-archaeology
#18
REVIEW
Christina Warinner, Alexander Herbig, Allison Mann, James A Fellows Yates, Clemens L Weiß, Hernán A Burbano, Ludovic Orlando, Johannes Krause
Microbial archaeology is flourishing in the era of high-throughput sequencing, revealing the agents behind devastating historical plagues, identifying the cryptic movements of pathogens in prehistory, and reconstructing the ancestral microbiota of humans. Here, we introduce the fundamental concepts and theoretical framework of the discipline, then discuss applied methodologies for pathogen identification and microbiome characterization from archaeological samples. We give special attention to the process of identifying, validating, and authenticating ancient microbes using high-throughput DNA sequencing data...
August 31, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28441061/precisely-where-are-we-going-charting-the-new-terrain-of-precision-prevention
#19
REVIEW
Karen M Meagher, Michelle L McGowan, Richard A Settersten, Jennifer R Fishman, Eric T Juengst
In addition to genetic data, precision medicine research gathers information about three factors that modulate gene expression: lifestyles, environments, and communities. The relevant research tools-epidemiology, environmental assessment, and socioeconomic analysis-are those of public health sciences rather than molecular biology. Because these methods are designed to support inferences and interventions addressing population health, the aspirations of this research are expanding from individualized treatment toward precision prevention in public health...
August 31, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28426286/on-the-evolution-of-lactase-persistence-in-humans
#20
REVIEW
Laure Ségurel, Céline Bon
Lactase persistence-the ability of adults to digest the lactose in milk-varies widely in frequency across human populations. This trait represents an adaptation to the domestication of dairying animals and the subsequent consumption of their milk. Five variants are currently known to underlie this phenotype, which is monogenic in Eurasia but mostly polygenic in Africa. Despite being a textbook example of regulatory convergent evolution and gene-culture coevolution, the story of lactase persistence is far from clear: Why are lactase persistence frequencies low in Central Asian herders but high in some African hunter-gatherers? Why was lactase persistence strongly selected for even though milk processing can reduce the amount of lactose? Are there other factors, outside of an advantage of caloric intake, that contributed to the selective pressure for lactase persistence? It is time to revisit what we know and still do not know about lactase persistence in humans...
August 31, 2017: Annual Review of Genomics and Human Genetics
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