74 Result(s)
within
Cancer Research
Human Genetics
Ben Ep**er
Biomedicine
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Article
Open AccessMenstrual cycle associated changes in hormone-related gene expression in oestrogen receptor positive breast cancer
The major changes in hormone levels that occur through the menstrual cycle have been postulated to affect the expression of hormone-regulated and proliferation-associated genes (PAGs) in premenopausal ER+ brea...
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Open AccessA chromosomal connectome for psychiatric and metabolic risk variants in adult dopaminergic neurons
Midbrain dopaminergic neurons (MDN) represent 0.0005% of the brain’s neuronal population and mediate cognition, food intake, and metabolism. MDN are also posited to underlay the neurobiological dysfunction of ...
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Article
Author Correction: Transcription phenotypes of pancreatic cancer are driven by genomic events during tumor evolution
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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Open AccessBCL9/STAT3 regulation of transcriptional enhancer networks promote DCIS progression
The molecular processes by which some human ductal carcinoma in situ (DCIS) lesions advance to the more aggressive form, while others remain indolent, are largely unknown. Experiments utilizing a patient-deriv...
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Article
Author Correction: Cas9 activates the p53 pathway and selects for p53-inactivating mutations
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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Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
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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Open AccessDevelopment and validation for research assessment of Oncotype DX® Breast Recurrence Score, EndoPredict® and Prosigna®
Multi-gene prognostic signatures including the Oncotype® DX Recurrence Score (RS), EndoPredict® (EP) and Prosigna® (Risk Of Recurrence, ROR) are widely used to predict the likelihood of distant recurrence in p...
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Open AccessClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
Whole genome sequencing (WGS) has the potential to outperform clinical microarrays for the detection of structural variants (SV) including copy number variants (CNVs), but has been challenged by high false pos...
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Open AccessIdentification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries
Lynch syndrome (LS), the most common inherited form of colorectal cancer (CRC), is responsible for 3% of all cases of CRC. LS is caused by a mismatch repair gene defect and is characterized by a high risk for ...
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Open AccessGenome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles
Migraine affects over a billion individuals worldwide but its genetic underpinning remains largely unknown. Here, we performed a genome-wide association study of 102,084 migraine cases and 771,257 controls and...
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Open AccessWithin-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects
Estimates from genome-wide association studies (GWAS) of unrelated individuals capture effects of inherited variation (direct effects), demography (population stratification, assortative mating) and relatives ...
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Open AccessCombined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes
Three-quarters of bladder cancer patients present with early-stage disease (non-muscle-invasive bladder cancer, NMIBC, UICC TNM stages Ta, T1 and Tis); however, most next-generation sequencing studies to date ...
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Open AccessMultiomic atlas with functional stratification and developmental dynamics of zebrafish cis-regulatory elements
Zebrafish, a popular organism for studying embryonic development and for modeling human diseases, has so far lacked a systematic functional annotation program akin to those in other animal models. To address t...
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Open AccessREViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
Expansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral sclerosis, Huntington disease, and many others. Multiple methods have been recently develo...
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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...
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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 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 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 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 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 ...
