A brief history of human disease genetics
M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …
biomedical traits, particularly those related to the onset and progression of human disease …
Genetics of mitochondrial diseases: Identifying mutations to help diagnosis
SL Stenton, H Prokisch - EBioMedicine, 2020 - thelancet.com
Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …
of inherited diseases. The vast phenotypic overlap with other disease entities together with …
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
Whole-genome sequencing of patients with rare diseases in a national health system
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered …
variants and causative genes for more than half such disorders remain to be discovered …
The polygenic and monogenic basis of blood traits and diseases
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
Genetic interleukin 6 signaling deficiency attenuates cardiovascular risk in clonal hematopoiesis
Background: Clonal hematopoiesis of indeterminate potential (CHIP) refers to clonal
expansion of hematopoietic stem cells attributable to acquired leukemic mutations in genes …
expansion of hematopoietic stem cells attributable to acquired leukemic mutations in genes …
A resource-efficient tool for mixed model association analysis of large-scale data
The genome-wide association study (GWAS) has been widely used as an experimental
design to detect associations between genetic variants and a phenotype. Two major …
design to detect associations between genetic variants and a phenotype. Two major …
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis
Osteoporosis is caused by an imbalance of osteoclasts and osteoblasts, occurring in close
proximity to hematopoietic cells in the bone marrow. Recurrent somatic mutations that lead …
proximity to hematopoietic cells in the bone marrow. Recurrent somatic mutations that lead …
Functionally informed fine-mapping and polygenic localization of complex trait heritability
Fine-mapping aims to identify causal variants impacting complex traits. We propose
PolyFun, a computationally scalable framework to improve fine-mapping accuracy by …
PolyFun, a computationally scalable framework to improve fine-mapping accuracy by …