74 Result(s)
within
Cancer Research
Human Genetics
Ben Ep**er
Biomedicine
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Article
Open AccessAnalysis of 10,478 cancer genomes identifies candidate driver genes and opportunities for precision oncology
Tumor genomic profiling is increasingly seen as a prerequisite to guide the treatment of patients with cancer. To explore the value of whole-genome sequencing (WGS) in broadening the scope of cancers potential...
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Open AccessGenomes of multicellular algal sisters to land plants illuminate signaling network evolution
Zygnematophyceae are the algal sisters of land plants. Here we sequenced four genomes of filamentous Zygnematophyceae, including chromosome-scale assemblies for three strains of Zygnema circumcarinatum. We inferr...
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Open AccessThe emergence of highly resistant and hypervirulent Klebsiella pneumoniae CC14 clone in a tertiary hospital over 8 years
Klebsiella pneumoniae is a major bacterial and opportunistic human pathogen, increasingly recognized as a healthcare burden globally. The convergence of resistance and virulence in K. pneumoniae strains has led t...
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Open AccessBurden of Mendelian disorders in a large Middle Eastern biobank
Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familia...
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Open AccessAccurate and sensitive mutational signature analysis with MuSiCal
Mutational signature analysis is a recent computational approach for interpreting somatic mutations in the genome. Its application to cancer data has enhanced our understanding of mutational forces driving tum...
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Open AccessStructural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are of...
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Open AccessGenome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth
A well-functioning placenta is essential for fetal and maternal health throughout pregnancy. Using placental weight as a proxy for placental growth, we report genome-wide association analyses in the fetal (n = 65...
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Open AccessGenome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target
Abdominal aortic aneurysm (AAA) is a common disease with substantial heritability. In this study, we performed a genome-wide association meta-analysis from 14 discovery cohorts and uncovered 141 independent as...
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Open AccessAuthor Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
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Open AccessSecond breast cancer: recurrence score results, clinicopathologic characteristics, adjuvant treatments, and outcomes—exploratory analysis of the Clalit registry
Data on using the 21-gene Recurrence Score (RS) testing on second breast cancer (BC; second primary or local recurrence) are lacking. This cohort study examined patients with first and second BC, who underwent...
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Open AccessGWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification
Conventional measurements of fasting and postprandial blood glucose levels investigated in genome-wide association studies (GWAS) cannot capture the effects of DNA variability on ‘around the clock’ glucoregula...
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Open AccessAuthor Correction: Genetic effects on the timing of parturition and links to fetal birth weight
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Article
Open AccessDynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy
Circulating tumour DNA (ctDNA) analysis promises to improve the clinical care of people with cancer, address health inequities and guide translational research. This observational cohort study used ctDNA to fo...
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Open AccessGenetic effects on the timing of parturition and links to fetal birth weight
The timing of parturition is crucial for neonatal survival and infant health. Yet, its genetic basis remains largely unresolved. We present a maternal genome-wide meta-analysis of gestational duration (n = 195,55...
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Open AccessMulti-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising ...
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Open AccessRisk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations
The genetic architectures of colorectal cancer are distinct across different populations. To date, the majority of polygenic risk scores (PRSs) are derived from European (EUR) populations, which limits their a...
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Open AccessDiscovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery d...
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Open AccessUniversal clinical Parkinson’s disease axes identify a major influence of neuroinflammation
There is large individual variation in both clinical presentation and progression between Parkinson’s disease patients. Generation of deeply and longitudinally phenotyped patient cohorts has enormous potential...
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Open AccessWhole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
The value of genome-wide over targeted driver analyses for predicting clinical outcomes of cancer patients is debated. Here, we report the whole-genome sequencing of 485 chronic lymphocytic leukemia patients e...
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Open AccessComputational quantification and characterization of independently evolving cellular subpopulations within tumors is critical to inhibit anti-cancer therapy resistance
Drug resistance continues to be a major limiting factor across diverse anti-cancer therapies. Contributing to the complexity of this challenge is cancer plasticity, in which one cancer subtype switches to anot...
