A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
70-year legacy of the Framingham Heart Study
Abstract The Framingham Heart Study (FHS) was established in 1948 to improve
understanding of the epidemiology of coronary heart disease (CHD) in the USA. In 1961 …
understanding of the epidemiology of coronary heart disease (CHD) in the USA. In 1961 …
Evolutionary constraint and innovation across hundreds of placental mammals
Zoonomia is the largest comparative genomics resource for mammals produced to date. By
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
Predicting splicing from primary sequence with deep learning
The splicing of pre-mRNAs into mature transcripts is remarkable for its precision, but the
mechanisms by which the cellular machinery achieves such specificity are incompletely …
mechanisms by which the cellular machinery achieves such specificity are incompletely …
REVEL: an ensemble method for predicting the pathogenicity of rare missense variants
NM Ioannidis, JH Rothstein, V Pejaver… - The American Journal of …, 2016 - cell.com
The vast majority of coding variants are rare, and assessment of the contribution of rare
variants to complex traits is hampered by low statistical power and limited functional data …
variants to complex traits is hampered by low statistical power and limited functional data …
[图书][B] Who we are and how we got here: Ancient DNA and the new science of the human past
D Reich - 2018 - books.google.com
The past few years have witnessed a revolution in our ability to obtain DNA from ancient
humans. This important new data has added to our knowledge from archaeology and …
humans. This important new data has added to our knowledge from archaeology and …
The allelic landscape of human blood cell trait variation and links to common complex disease
WJ Astle, H Elding, T Jiang, D Allen, D Ruklisa… - Cell, 2016 - cell.com
Many common variants have been associated with hematological traits, but identification of
causal genes and pathways has proven challenging. We performed a genome-wide …
causal genes and pathways has proven challenging. We performed a genome-wide …
[HTML][HTML] Human demographic history impacts genetic risk prediction across diverse populations
The vast majority of genome-wide association studies (GWASs) are performed in
Europeans, and their transferability to other populations is dependent on many factors (eg …
Europeans, and their transferability to other populations is dependent on many factors (eg …
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the
elderly, with limited therapeutic options. Here we report on a study of> 12 million variants …
elderly, with limited therapeutic options. Here we report on a study of> 12 million variants …