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Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population
Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population
medRxiv - The Preprint Server for Health Sciences
Dissecting the genetic and proteomic risk factors for delirium
Dissecting the genetic and proteomic risk factors for delirium
medRxiv - The Preprint Server for Health Sciences
Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam
Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam
medRxiv - The Preprint Server for Health Sciences
Regional nonsense constraint offers clinical and biological insights into rare genetic disorders
Regional nonsense constraint offers clinical and biological insights into rare genetic disorders
medRxiv - The Preprint Server for Health Sciences
Integrated Molecular Profiling of Rhabdomyosarcoma Subtypes by Targeted RNAseq
Integrated Molecular Profiling of Rhabdomyosarcoma Subtypes by Targeted RNAseq
medRxiv - The Preprint Server for Health Sciences
Population-Specific Polygenic Risk Scores Developed for the Han Chinese
Population-Specific Polygenic Risk Scores Developed for the Han Chinese
medRxiv - The Preprint Server for Health Sciences
Navigating the Impact of the 21st Century Cures Act Final Rule: A National Survey of U.S. Genetic Counselors
Navigating the Impact of the 21st Century Cures Act Final Rule: A National Survey of U.S. Genetic Counselors
medRxiv - The Preprint Server for Health Sciences
Rare variants and survival of patients with idiopathic pulmonary fibrosis
Rare variants and survival of patients with idiopathic pulmonary fibrosis
medRxiv - The Preprint Server for Health Sciences
Examining the causal genetic effects of substance use on aging
Examining the causal genetic effects of substance use on aging
medRxiv - The Preprint Server for Health Sciences
The role of the ADRB2 Thr164Ile variant in lung function determination, plasma proteome variability and other phenotypes in UK Biobank
The role of the ADRB2 Thr164Ile variant in lung function determination, plasma proteome variability and other phenotypes in UK Biobank
medRxiv - The Preprint Server for Health Sciences
Integrated cell type-specific analysis of blood and gut identifies matching eQTL for 140 IBD risk loci and entrectinib as possible repurposing candidate.
Integrated cell type-specific analysis of blood and gut identifies matching eQTL for 140 IBD risk loci and entrectinib as possible repurposing candidate.
medRxiv - The Preprint Server for Health Sciences
Association study of common KLF1 variants with Hb F and Hb A2 levels in β-thalassaemia carriers of Portuguese ancestry
Association study of common KLF1 variants with Hb F and Hb A2 levels in β-thalassaemia carriers of Portuguese ancestry
Kruppel-like factor 1 (KLF1) is an essential erythroid-specific transcription factor. Several reports have shown that KLF1...
Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus
Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus
IntroductionLong-read sequencing (LRS) enables accurate structural variant detection and variant phasing. When a molecular...
Trends and frontiers of RNA methylation in cancer over the past 10 years: a bibliometric and visual analysis
Trends and frontiers of RNA methylation in cancer over the past 10 years: a bibliometric and visual analysis
PurposeTo highlight the trends and frontiers of RNA methylation in cancer over the past 10 years.MethodsResearch publicati...
ONT sequencing identifies a high prevalence of crt sensitive, triple mutant dhfr and single mutant dhps parasites within an ANC population in Nigeria
ONT sequencing identifies a high prevalence of crt sensitive, triple mutant dhfr and single mutant dhps parasites within an ANC population in Nigeria
BackgroundMalaria in pregnancy is a major public health issue, particularly among vulnerable populations in malaria-endemi...
Identification of lncRNAs regulating seed traits in Brassica juncea and development of a comprehensive seed omics database
Identification of lncRNAs regulating seed traits in Brassica juncea and development of a comprehensive seed omics database
Brassica juncea is a crucial oilseed crop, and its seeds possess high economic value as they are a source of edible oil. I...
Evolutionary diversity of CXCL16-CXCR6: Convergent substitutions and recurrent gene loss in sauropsids
Evolutionary diversity of CXCL16-CXCR6: Convergent substitutions and recurrent gene loss in sauropsids
The CXCL16-CXCR6 axis is crucial for regulating the persistence of CD8 tissue-resident memory T cells (TRM). CXCR6 deficie...
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago
Mainland Japanese have been recognized as having dual ancestry, originating from indigenous Jomon people and immigrants fr...
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Clinical cancer genetics services are expanding globally, but national policy and health care systems influence availabili...
Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES)
Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES)
Pain is common in the genetic skin fragility disorder epidermolysis bullosa (EB), from skin and mucosal injury and inflamm...
TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy
TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy
Biallelic pathogenic variants in TARS2 lead to combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #61...
Interactions between cancer and stroma mediated by extracellular vesicles
Interactions between cancer and stroma mediated by extracellular vesicles
Extracellular vehicles (EVs) are small membrane-bound particles that are released by both cancer and stromal cells. These ...
Screening and identification of key biomarkers associated with endometriosis using bioinformatics and next-generation sequencing data analysis
Screening and identification of key biomarkers associated with endometriosis using bioinformatics and next-generation sequencing data analysis
Endometriosis is a common cause of endometrial-type mucosa outside the uterine cavity with symptoms such as painful period...
On the cutting edge of sickle cell disease: a snapshot narrative review
On the cutting edge of sickle cell disease: a snapshot narrative review
Sickle cell disease (SCD) is the most common hemoglobinopathy worldwide, characterized by vaso-occlusive crises and ischem...
Implementing differentially pigmented skin models for predicting drug response variability across human ancestries
Implementing differentially pigmented skin models for predicting drug response variability across human ancestries
Persistent racial disparities in health outcomes have catalyzed legislative reforms and heightened scientific focus recent...
Fast and accurate DNASeq variant calling workflow composed of LUSH toolkit
Fast and accurate DNASeq variant calling workflow composed of LUSH toolkit
Whole genome sequencing (WGS) is becoming increasingly prevalent for molecular diagnosis, staging and prognosis because of...
Accelerated Biological Aging in Familial Pulmonary Fibrosis
Accelerated Biological Aging in Familial Pulmonary Fibrosis
medRxiv - The Preprint Server for Health Sciences
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes
medRxiv - The Preprint Server for Health Sciences
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
medRxiv - The Preprint Server for Health Sciences
Causal relationship between Women’s reproductive traits and postpartum depression: a multivariate mendelian randomization analysis
Causal relationship between Women’s reproductive traits and postpartum depression: a multivariate mendelian randomization analysis
PurposeThe relationship between women’s reproductive traits and postpartum depression (PPD) has not been clarified. We rev...
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