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Open AccessProtein-altering variants at copy number-variable regions influence diverse human phenotypes
Copy number variants (CNVs) are among the largest genetic variants, yet CNVs have not been effectively ascertained in most genetic association studies. Here we ascertained protein-altering CNVs from UK Biobank...
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Article
Open AccessA concerted neuron–astrocyte program declines in ageing and schizophrenia
Human brains vary across people and over time; such variation is not yet understood in cellular terms. Here we describe a relationship between people’s cortical neurons and cortical astrocytes. We used single-...
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Article
Open AccessChromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions
Non-invasive prenatal testing (NIPT) to detect fetal aneuploidy by sequencing the cell-free DNA (cfDNA) in maternal plasma is being broadly adopted. To detect fetal aneuploidies from maternal plasma, where fet...
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Author Correction: Schizophrenia risk from complex variation of complement component 4
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Article
Open AccessThe genetic architecture of DNA replication timing in human pluripotent stem cells
DNA replication follows a strict spatiotemporal program that intersects with chromatin structure but has a poorly understood genetic basis. To systematically identify genetic regulators of replication timing, ...
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Article
Complement genes contribute sex-biased vulnerability in diverse disorders
Many common illnesses, for reasons that have not been identified, differentially affect men and women. For instance, the autoimmune diseases systemic lupus erythematosus (SLE) and Sjögren’s syndrome affect nin...
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Open AccessPublisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessMulti-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, ...
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Open AccessPublisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries
The original version of this article contained an error in the name of the author Ramachandran S. Vasan, which was incorrectly given as Vasan S. Ramachandran. This has now been corrected in both the PDF and HT...
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Article
Open AccessDeep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries
Lipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA, and is a highly heritable, causal risk factor for cardiovascular diseases that varies in conc...
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Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium
In the version of this article initially published, the consortium authorship and corresponding authors were not presented correctly. In the PDF and print versions, the Whole Genome Sequencing for Psychiatric ...
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Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
The selective pressures that shape clonal evolution in healthy individuals are largely unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb long, that we uncovered in blood-d...
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Open AccessA whole-genome sequence study identifies genetic risk factors for neuromyelitis optica
Neuromyelitis optica (NMO) is a rare autoimmune disease that affects the optic nerve and spinal cord. Most NMO patients ( > 70%) are seropositive for circulating autoantibodies against aquaporin 4 (NMO-IgG+). ...
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An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
Genomic association studies of common or rare protein-coding variation have established robust statistical approaches to account for multiple testing. Here we present a comparable framework to evaluate rare an...
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Whole genome sequencing in psychiatric disorders: the WGSPD consortium
As technology advances, whole genome sequencing (WGS) is likely to supersede other genoty** technologies. The rate of this change depends on its relative cost and utility. Variants identified uniquely throug...
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Article
Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations
The authors surveyed whole-exome and RNA-sequencing data from 252 unique pluripotent stem cell lines, some of which are in the pipeline for clinical use, and found that approximately 5% of cell lines had acqui...
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
Rare genetic mutations that disrupt the functionality of important genes increase the risk of psychiatric and neurodevelopmental disorder. This study found that, in the general population not diagnosed with su...
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Article
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
Chris Tyler-Smith, Carlos Bustamante and colleagues report an analysis of 1,244 human Y chromosomes from the 1000 Genomes Project. They find that copy number variants have a higher predicted functional impact ...
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Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels
Steven McCarroll and colleagues present a detailed study of copy number variation of exons within the human HP (haptoglobin) gene. They show that HP exons undergo recurring deletions that, together with local SNP...
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Article
Schizophrenia risk from complex variation of complement component 4
Schizophrenia is a heritable brain illness with unknown pathogenic mechanisms. Schizophrenia’s strongest genetic association at a population level involves variation in the major histocompatibility complex (MH...
