sebigec
@sebigec
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Cuenta con unl doble propósito: Que la especialidad de futuro sea de Bioquímica y Genética Clínica y unificación de las asociaciones científicas del LC.
España
Joined May 2023
Ante la desaparición de la especialidad de Bioquímica Clínica, bajo el eufemismo de "fusión", una propuesta para superar las actuales sociedades y la creación de una especialidad de presente con perspectiva de futuro: https://t.co/Kl80cLhPB9
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Exome sequencing points to pathogenic ATM variants in gastric cancer https://t.co/jpi71Tk7aA
#EurJHumGen
nature.com
European Journal of Human Genetics - Exome sequencing points to pathogenic ATM variants in gastric cancer
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#Genetics Why the human brain matures slower than its primate relatives
medicalxpress.com
The human brain is a fascinating and complex organ that supports numerous sophisticated behaviors and abilities that are observed in no other animal species. For centuries, scientists have been...
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Understanding Exceptional Response: The Role of MINDY1 SNP in CDK4/6 Inhibitor Therapy for ER-Positive, HER2-Negative Advanced Breast Cancer
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#OncologyampCancer Rb1 identified as predictive biomarker for new therapeutic strategy in some breast cancers
medicalxpress.com
A new study published in Science Translational Medicine by researchers at The University of Texas MD Anderson Cancer Center details a therapeutic vulnerability in patients with an aggressive subtype...
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A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy https://t.co/5AewSbDRqO
#EurJHumGen
nature.com
European Journal of Human Genetics - A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
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Validation of the SOPHiA DDM HRD Solution as a Companion Diagnostic for PARPi Access in Australia https://t.co/4AIZftUFOC
#JMolDiagn
jmdjournal.org
In this multi-laboratory validation study of 145 ovarian cancer samples, the SOPHiA DDM HRD Solution was compared with the regulatory-approved Myriad myChoice HRD assay to assess clinical comparabi...
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NeoGuider: neoepitope prediction using advanced feature engineering https://t.co/HifxnxlQXW
#GenomeMed
pubmed.ncbi.nlm.nih.gov
The design of neoepitope-based cancer immunotherapy requires predicting the immunogenicity of each patient-specific neoepitope candidate. We designed NeoGuider, a machine-learning model to address...
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MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism https://t.co/L1EIw6E0rt AJHG #AmJHumGenet
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GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders https://t.co/TawJVNxcOZ AJHG #AmJHumGenet
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#Genetics Fathers' microplastics exposure tied to their children's metabolic problems
medicalxpress.com
A study led by biomedical scientists at the University of California, Riverside, has shown for the first time that a father's exposure to microplastics (MPs) can trigger metabolic dysfunctions in his...
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Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia https://t.co/XNkbHDxzpR
#HumMolGenet
pubmed.ncbi.nlm.nih.gov
Many diseases are caused by pathogenic expansion of microsatellite repeats. Longread sequencing allows evaluation of the content of such expanded repeats. Friedreich ataxia patients are typically...
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Airway transcriptome networks for ozone and PM2.5 exposure reveal distinct key drivers for children with asthma https://t.co/oluox5PGrf
#GenomeMed
pubmed.ncbi.nlm.nih.gov
Children with and without asthma have very distinct causal networks and key drivers for ozone and PM2.5 exposure. The identified key drivers represent high-yield targets for intervention and treatm...
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Characterization of Large Genomic Rearrangements in BRCA1 and BRCA2 Genes in a Chinese High-Risk Cohort https://t.co/hoS2dnXen7
#JMolDiagn
jmdjournal.org
Large genomic rearrangements (LGRs) account for at least 10% of the mutations in BRCA1 and 5% of BRCA2 mutations in outbred families with hereditary breast and ovarian cancer. A total of 21 probands...
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Low population penetrance of variants associated with inherited retinal degenerations https://t.co/giGpR49B9Q AJHG #AmJHumGenet
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The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory https://t.co/vTwBsXS6k3 AJHG #AmJHumGenet
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Interaction of identity and beliefs with genetic literacy https://t.co/2vLlOZXkrx AJHG #AmJHumGenet
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Hereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome https://t.co/U0emfKtrai
#EurJHumGen
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#OncologyampCancer BRAF gene mutation leads to different therapeutic responses in melanoma and colorectal cancer
medicalxpress.com
A review article led by researchers from the B·ARGO group at the Germans Trias i Pujol Research Institute (IGTP) and from the Medical Oncology Department of the Catalan Institute of Oncology (ICO) in...
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