Clinical use of current polygenic risk scores may exacerbate health disparities

AR Martin, M Kanai, Y Kamatani, Y Okada, BM Neale… - Nature …, 2019 - nature.com
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …

[HTML][HTML] Genomic analysis in the age of human genome sequencing

T Lappalainen, AJ Scott, M Brandt, IM Hall - Cell, 2019 - cell.com
Affordable genome sequencing technologies promise to revolutionize the field of human
genetics by enabling comprehensive studies that interrogate all classes of genome …

Efficient phasing and imputation of low-coverage sequencing data using large reference panels

S Rubinacci, DM Ribeiro, RJ Hofmeister, O Delaneau - Nature genetics, 2021 - nature.com
Low-coverage whole-genome sequencing followed by imputation has been proposed as a
cost-effective genoty** approach for disease and population genetics studies. However …

A beginner's guide to low‐coverage whole genome sequencing for population genomics

RN Lou, A Jacobs, AP Wilder… - Molecular …, 2021 - Wiley Online Library
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 …

Ancient Rome: A genetic crossroads of Europe and the Mediterranean

ML Antonio, Z Gao, HM Moots, M Lucci, F Candilio… - Science, 2019 - science.org
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 …

Sequencing depth and coverage: key considerations in genomic analyses

D Sims, I Sudbery, NE Ilott, A Heger… - Nature Reviews …, 2014 - nature.com
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 …

Rare-variant association analysis: study designs and statistical tests

S Lee, GR Abecasis, M Boehnke, X Lin - The American Journal of Human …, 2014 - cell.com
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 …

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 …

Guidelines for investigating causality of sequence variants in human disease

DG MacArthur, TA Manolio, DP Dimmock, HL Rehm… - Nature, 2014 - nature.com
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 …

Whole‐genome sequencing approaches for conservation biology: Advantages, limitations and practical recommendations

AP Fuentes‐Pardo, DE Ruzzante - Molecular ecology, 2017 - Wiley Online Library
Whole‐genome resequencing (WGR) is a powerful method for addressing fundamental
evolutionary biology questions that have not been fully resolved using traditional methods …