Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
Tracing the peopling of the world through genomics
Advances in the sequencing and the analysis of the genomes of both modern and ancient
peoples have facilitated a number of breakthroughs in our understanding of human …
peoples have facilitated a number of breakthroughs in our understanding of human …
[HTML][HTML] 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 …
Genetic analyses of diverse populations improves discovery for complex traits
Genome-wide association studies (GWAS) have laid the foundation for investigations into
the biology of complex traits, drug development and clinical guidelines. However, the …
the biology of complex traits, drug development and clinical guidelines. However, the …
Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power
Admixed populations are routinely excluded from genomic studies due to concerns over
population structure. Here, we present a statistical framework and software package, Tractor …
population structure. Here, we present a statistical framework and software package, Tractor …
[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 …
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …
[HTML][HTML] ANGSD: analysis of next generation sequencing data
Background High-throughput DNA sequencing technologies are generating vast amounts of
data. Fast, flexible and memory efficient implementations are needed in order to facilitate …
data. Fast, flexible and memory efficient implementations are needed in order to facilitate …
Genomics of disease risk in globally diverse populations
Risk of disease is multifactorial and can be shaped by socio-economic, demographic,
cultural, environmental and genetic factors. Our understanding of the genetic determinants …
cultural, environmental and genetic factors. Our understanding of the genetic determinants …
[HTML][HTML] Analysis of human sequence data reveals two pulses of archaic Denisovan admixture
Anatomically modern humans interbred with Neanderthals and with a related archaic
population known as Denisovans. Genomes of several Neanderthals and one Denisovan …
population known as Denisovans. Genomes of several Neanderthals and one Denisovan …