[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 …

The human phenotype ontology in 2021

S Köhler, M Gargano, N Matentzoglu… - Nucleic acids …, 2021 - academic.oup.com
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 …

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

KR Bradnam, JN Fass, A Alexandrov, P Baranay… - …, 2013 - academic.oup.com
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 …

Whole-genome sequencing of patients with rare diseases in a national health system

E Turro, WJ Astle, K Megy, S Gräf, D Greene… - Nature, 2020 - nature.com
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 …

Assemblathon 1: a competitive assessment of de novo short read assembly methods

D Earl, K Bradnam, JS John, A Darling, D Lin… - Genome …, 2011 - genome.cshlp.org
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 …

[PDF][PDF] Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease

KJ Carss, G Arno, M Erwood, J Stephens… - The American Journal of …, 2017 - cell.com
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 …

[HTML][HTML] Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

S Gräf, M Haimel, M Bleda, C Hadinnapola… - Nature …, 2018 - nature.com
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 …

[HTML][HTML] Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

P Tuijnenburg, HL Allen, SO Burns, D Greene… - Journal of allergy and …, 2018 - Elsevier
Background The genetic cause of primary immunodeficiency disease (PID) carries
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 …

[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 …