1,094 Result(s)
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Ben Ep**er
Human Genetics
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Article
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing methods remains crucial to provide an accurate diagnosis. In ...
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Open AccessMendelian randomization analysis reveals higher whole body water mass may increase risk of bacterial infections
The association of water loading with several infections remains unclear. Observational studies are hard to investigate definitively due to potential confounders. In this study, we employed Mendelian randomiza...
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Genetic diversity of North African populations in the 17q21 genomic region
The demographic history of human populations in North Africa has been characterized by complex migration processes that have determined the current genetic structure of these populations. We examined the autos...
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The smaller firstborn: exploring the association of parity and fetal growth
To investigate the association of parity with a range of neonatal anthropometric measurements in a cohort of uncomplicated term singleton pregnancies.
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Open AccessModelling and comparing the use of IVF and ICSI in Australia
This study estimates the need of IVF/ICSI in Australia as compared to its actual uptake.
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Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches
Familial Hypophosphatasia presents a complex diagnostic challenge due to its wide-ranging clinical manifestations and genetic heterogeneity. This study aims to elucidate the molecular underpinnings of familial...
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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 AccessLABS: linear amplification-based bisulfite sequencing for ultrasensitive cancer detection from cell-free DNA
Methylation-based liquid biopsies show promises in detecting cancer using circulating cell-free DNA; however, current limitations impede clinical application. Most assays necessitate substantial DNA inputs, po...
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MicroRNA-361-5p Alleviates Leydig Cell Apoptosis and Promotes Cell Growth by Targeting PIAS1 in Late-Onset Hypogonadism
Late-onset hypogonadism (LOH) is an age-related syndrome characterized by deficiency of serum testosterone produced by Leydig cells. Previous evidence suggested that microRNA (miR)-361-3p can serve as a promis...
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Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease
Coronary artery disease (CAD) exists on a spectrum of disease represented by a combination of risk factors and pathogenic processes. An in silico score for CAD built using machine learning and clinical data in...
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Open AccessIs there a preferred time interval between gonadotropin-releasing hormone (GnRH) agonist trigger and oocyte retrieval in GnRH antagonist cycles? A retrospective cohort of planned fertility preservation cycles
The ideal time frame between gonadotropin-releasing hormone (GnRH) agonist (GnRHa) trigger administration and oocyte retrieval in GnRH antagonist cycles has not been well studied. Our goal was to evaluate the ...
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Open AccessCan serum progesterone concentration direct a fresh or freeze-all transfer strategy in the first in vitro fertilisation cycle?
To examine the interaction between serum progesterone concentration on the trigger day and choice of freeze-all and fresh transfer strategies on live birth in an unselected population as well as in patients ov...
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Open AccessA comprehensive analysis of minimally differentially methylated regions common to pediatric and adult solid tumors
Cancer is the second most common cause of death in children aged 1–14 years in the United States, with 11,000 new cases and 1200 deaths annually. Pediatric cancers typically have lower mutational burden compar...
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Open AccessPan-cancer analysis of CDKN2A alterations identifies a subset of gastric cancer with a cold tumor immune microenvironment
Although CDKN2A alteration has been explored as a favorable factor for tumorigenesis in pan-cancers, the association between CDKN2A point mutation (MUT) and intragenic deletion (DEL) and response to immune che...
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Open AccessGenetic landscape of interval and screen detected breast cancer
Interval breast cancers (IBCs) are cancers diagnosed between screening episodes. Understanding the biological differences between IBCs and screen-detected breast-cancers (SDBCs) has the potential to improve ma...
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Intrauterine insemination timing models—LH can only take you so far
Can an optimal LH threshold algorithm accurately predict timing of ovulation for natural cycle–intrauterine insemination (NC-IUI)?
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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 AccessCritical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturi...
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Open AccessCentrifuger: lossless compression of microbial genomes for efficient and accurate metagenomic sequence classification
Centrifuger is an efficient taxonomic classification method that compares sequencing reads against a microbial genome database. In Centrifuger, the Burrows-Wheeler transformed genome sequences are losslessly c...
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Open AccessMeasuring, visualizing, and diagnosing reference bias with biastools
Many bioinformatics methods seek to reduce reference bias, but no methods exist to comprehensively measure it. Biastools analyzes and categorizes instances of reference bias. It works in various scenarios: when t...
