-
Article
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
-
Article
Inferring compound heterozygosity from large-scale exome sequencing data
Recessive diseases arise when both copies of a gene are impacted by a damaging genetic variant. When a patient carries two potentially causal variants in a gene, accurate diagnosis requires determining that th...
-
Article
A genomic mutational constraint map using variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has been widely used to investigate protein-coding genes underlying human disorders1–4, but attempts to assess constraint f...
-
Article
Open AccessDeterminants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all...
-
Article
Author Correction: The effect of LRRK2 loss-of-function variants in humans
A Correction to this paper has been published: https://doi.org/10.1038/s41591-020-01185-6.
-
Article
Open AccessThe effect of LRRK2 loss-of-function variants in humans
Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and ...
-
Article
Open AccessABO antigen and secretor statuses are not associated with gut microbiota composition in 1,500 twins
Host genetics is one of several factors known to shape human gut microbiome composition, however, the physiological processes underlying the heritability are largely unknown. Inter-individual differences in ho...
-
Article
Open AccessHeritable components of the human fecal microbiome are associated with visceral fat
Variation in the human fecal microbiota has previously been associated with body mass index (BMI). Although obesity is a global health burden, the accumulation of abdominal visceral fat is the specific cardio-...
-
Article
Correction: Corrigendum: Dietary emulsifiers impact the mouse gut microbiota promoting colitis and metabolic syndrome
Nature 519, 92–96 (2015); doi:10.1038/nature14232 Some clarifications are provided to this Letter; these do not alter any of the central conclusions but, rather, are provided in the interests of transparency a...
-
Article
Open AccessReduced diversity and altered composition of the gut microbiome in individuals with myalgic encephalomyelitis/chronic fatigue syndrome
Gastrointestinal disturbances are among symptoms commonly reported by individuals diagnosed with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). However, whether ME/CFS is associated with an alter...
-
Article
Open AccessHost genetic variation impacts microbiome composition across human body sites
The composition of bacteria in and on the human body varies widely across human individuals, and has been associated with multiple health conditions. While microbial communities are influenced by environmental...
-
Article
Dietary emulsifiers impact the mouse gut microbiota promoting colitis and metabolic syndrome
Emulsifying agents, which are common food additives in the human diet, induce low-grade inflammation and obesity/metabolic syndrome in mice, suggesting that further investigation into the potential impact of d...
-
Article
QIIME allows analysis of high-throughput community sequencing data
