[PDF][PDF] 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 …
The human phenotype ontology in 2021
Abstract The Human Phenotype Ontology (HPO, https://hpo. jax. org) was launched in 2008
to provide a comprehensive logical standard to describe and computationally analyze …
to provide a comprehensive logical standard to describe and computationally analyze …
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species
Background The process of generating raw genome sequence data continues to become
cheaper, faster, and more accurate. However, assembly of such data into high-quality …
cheaper, faster, and more accurate. However, assembly of such data into high-quality …
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 …
Assemblathon 1: a competitive assessment of de novo short read assembly methods
Low-cost short read sequencing technology has revolutionized genomics, though it is only
just becoming practical for the high-quality de novo assembly of a novel large genome. We …
just becoming practical for the high-quality de novo assembly of a novel large genome. We …
[PDF][PDF] Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
[HTML][HTML] Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious
variation within components of the transforming growth factor-β pathway, particularly the …
variation within components of the transforming growth factor-β pathway, particularly the …
[HTML][HTML] Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Background The genetic cause of primary immunodeficiency disease (PID) carries
prognostic information. Objective We conducted a whole-genome sequencing study …
prognostic information. Objective We conducted a whole-genome sequencing study …
Plasma metabolomics implicates modified transfer RNAs and altered bioenergetics in the outcomes of pulmonary arterial hypertension
CJ Rhodes, P Ghataorhe, J Wharton… - Circulation, 2017 - Am Heart Assoc
Background: Pulmonary arterial hypertension (PAH) is a heterogeneous disorder with high
mortality. Methods: We conducted a comprehensive study of plasma metabolites using …
mortality. Methods: We conducted a comprehensive study of plasma metabolites using …
[HTML][HTML] Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis
CJ Rhodes, K Batai, M Bleda, M Haimel… - The lancet respiratory …, 2019 - thelancet.com
Background Rare genetic variants cause pulmonary arterial hypertension, but the
contribution of common genetic variation to disease risk and natural history is poorly …
contribution of common genetic variation to disease risk and natural history is poorly …