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Clinical use of current polygenic risk scores may exacerbate health disparities
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …
medicine. However, the major ethical and scientific challenge surrounding clinical …
[HTML][HTML] Genomic analysis in the age of human genome sequencing
Affordable genome sequencing technologies promise to revolutionize the field of human
genetics by enabling comprehensive studies that interrogate all classes of genome …
genetics by enabling comprehensive studies that interrogate all classes of genome …
Efficient phasing and imputation of low-coverage sequencing data using large reference panels
Low-coverage whole-genome sequencing followed by imputation has been proposed as a
cost-effective genoty** approach for disease and population genetics studies. However …
cost-effective genoty** approach for disease and population genetics studies. However …
A beginner's guide to low‐coverage whole genome sequencing for population genomics
Low‐coverage whole genome sequencing (lcWGS) has emerged as a powerful and cost‐
effective approach for population genomic studies in both model and nonmodel species …
effective approach for population genomic studies in both model and nonmodel species …
Ancient Rome: A genetic crossroads of Europe and the Mediterranean
Ancient Rome was the capital of an empire of~ 70 million inhabitants, but little is known
about the genetics of ancient Romans. Here we present 127 genomes from 29 …
about the genetics of ancient Romans. Here we present 127 genomes from 29 …
Sequencing depth and coverage: key considerations in genomic analyses
Sequencing technologies have placed a wide range of genomic analyses within the
capabilities of many laboratories. However, sequencing costs often set limits to the amount …
capabilities of many laboratories. However, sequencing costs often set limits to the amount …
Rare-variant association analysis: study designs and statistical tests
Despite the extensive discovery of trait-and disease-associated common variants, much of
the genetic contribution to complex traits remains unexplained. Rare variants can explain …
the genetic contribution to complex traits remains unexplained. Rare variants can explain …
Sparse whole-genome sequencing identifies two loci for major depressive disorder
Nature, 2015 - nature.com
Major depressive disorder (MDD), one of the most frequently encountered forms of mental
illness and a leading cause of disability worldwide, poses a major challenge to genetic …
illness and a leading cause of disability worldwide, poses a major challenge to genetic …
Guidelines for investigating causality of sequence variants in human disease
The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing
disease-causing sequence variants from the many potentially functional variants present in …
disease-causing sequence variants from the many potentially functional variants present in …
Whole‐genome sequencing approaches for conservation biology: Advantages, limitations and practical recommendations
Whole‐genome resequencing (WGR) is a powerful method for addressing fundamental
evolutionary biology questions that have not been fully resolved using traditional methods …
evolutionary biology questions that have not been fully resolved using traditional methods …