Genetics in Medicine Open
@gimopenjournal.bsky.social
Genetics in Medicine Open, an official journal of @theacmg.bsky.social and companion journal of @GIMJournal.bsky.social
Site use policy: bit.ly/gimconduct.
Site use policy: bit.ly/gimconduct.
Minimally invasive retrieval of #cardiomyocytes via ablation catheters enables successful DNA extraction & sequencing, paving the way for #mosaicism detection & novel cardiac genetic research bit.ly/4pPYksf #GIMO #Epigenetics #ArrhythmogenicRightVentricularCardiomyopathy
December 5, 2025 at 9:28 PM
Minimally invasive retrieval of #cardiomyocytes via ablation catheters enables successful DNA extraction & sequencing, paving the way for #mosaicism detection & novel cardiac genetic research bit.ly/4pPYksf #GIMO #Epigenetics #ArrhythmogenicRightVentricularCardiomyopathy
A deep intronic variant in PHKG2 caused #pseudoexon inclusion and GSD IX γ2 in two siblings, highlighting a pathway to detect and reverse non-coding splicing defects using RNA-seq and #antisensetherapy. bit.ly/4pMlNdS #GIMO #GlycogenStorageDisease #NonCodingVariants
December 3, 2025 at 9:42 PM
A deep intronic variant in PHKG2 caused #pseudoexon inclusion and GSD IX γ2 in two siblings, highlighting a pathway to detect and reverse non-coding splicing defects using RNA-seq and #antisensetherapy. bit.ly/4pMlNdS #GIMO #GlycogenStorageDisease #NonCodingVariants
Studies showed physicians were less likely to recommend surgery or intensive interventions when GS predicted neurodevelopmental or cancer risks for ill children with CHD. bit.ly/4iIsk71 #GIMO #CriticalCare #Pediatrics #Rationing #GenomicTesting #CongenitalHeartDisease
December 2, 2025 at 6:55 PM
Studies showed physicians were less likely to recommend surgery or intensive interventions when GS predicted neurodevelopmental or cancer risks for ill children with CHD. bit.ly/4iIsk71 #GIMO #CriticalCare #Pediatrics #Rationing #GenomicTesting #CongenitalHeartDisease
C. elegans model enables rapid reclassification of FH gene variants, offering a powerful tool to interpret #VUS and improve diagnosis in FH-associated metabolic diseases. bit.ly/3M9lpHT #GIMO #FHfum1 #ClinicalVariant #CRISPR #VariantClassification #ClinicalDiagnosis
December 2, 2025 at 1:04 AM
C. elegans model enables rapid reclassification of FH gene variants, offering a powerful tool to interpret #VUS and improve diagnosis in FH-associated metabolic diseases. bit.ly/3M9lpHT #GIMO #FHfum1 #ClinicalVariant #CRISPR #VariantClassification #ClinicalDiagnosis
#Clinicalalgorithm helps to identify people likely to have G6PD deficiency, helping improve diabetes monitoring where HbA1c may underestimate blood sugar levels, especially in patients with African ancestry. bit.ly/3WTihSC #GIMO #Glucose6PhosphateDehydrogenaseDeficiency
November 14, 2025 at 10:59 PM
#Clinicalalgorithm helps to identify people likely to have G6PD deficiency, helping improve diabetes monitoring where HbA1c may underestimate blood sugar levels, especially in patients with African ancestry. bit.ly/3WTihSC #GIMO #Glucose6PhosphateDehydrogenaseDeficiency
ApplyPolygenicScore, a new R package, streamlines polygenic score calculation and visualization to empower broader use of genetic risk models beyond statistical genetics. bit.ly/47C1UQA #GIMO #PolygenicRiskModel #PolygenicRiskScore #Cancer #BodyMassIndex
November 11, 2025 at 10:35 PM
ApplyPolygenicScore, a new R package, streamlines polygenic score calculation and visualization to empower broader use of genetic risk models beyond statistical genetics. bit.ly/47C1UQA #GIMO #PolygenicRiskModel #PolygenicRiskScore #Cancer #BodyMassIndex
What does #VUS mean to prenatal diagnostic testing? Study shows that children with a prenatal VUS diagnosis have similar developmental and health outcomes and family well-beings to those without. bit.ly/3WKRAPV #GIMO #ChromosomalMicroarrayAnalysis #PaediatricPopulation
November 6, 2025 at 9:05 PM
What does #VUS mean to prenatal diagnostic testing? Study shows that children with a prenatal VUS diagnosis have similar developmental and health outcomes and family well-beings to those without. bit.ly/3WKRAPV #GIMO #ChromosomalMicroarrayAnalysis #PaediatricPopulation
#DelayedDiagnosis of alpha-mannosidosis is common especially in mild cases, highlighting the need for early diagnosis to facilitate timely treatment bit.ly/4oTXxpC #GIMO #AlphaMannosidosis #LysosomalStorageDisorder #DiseaseSeverity #RareDisease #EnzymeReplacementTherapy
November 5, 2025 at 9:21 PM
#DelayedDiagnosis of alpha-mannosidosis is common especially in mild cases, highlighting the need for early diagnosis to facilitate timely treatment bit.ly/4oTXxpC #GIMO #AlphaMannosidosis #LysosomalStorageDisorder #DiseaseSeverity #RareDisease #EnzymeReplacementTherapy
Vosoritide not only boosts growth in children with achondroplasia but also improves craniofacial features, showing broader therapeutic potential beyond height alone. bit.ly/4nBUuBi #GIMO #Achondroplasia #FacialImaging #GeometricMorphometrics #3D
November 4, 2025 at 10:47 PM
Vosoritide not only boosts growth in children with achondroplasia but also improves craniofacial features, showing broader therapeutic potential beyond height alone. bit.ly/4nBUuBi #GIMO #Achondroplasia #FacialImaging #GeometricMorphometrics #3D
At ACMG 2023, a powerful plenary spotlighted the "#minoritytax" in medical genetics - prompting self-reflection, peer advocacy, and calls to transform this burden into "#minoritycapital." bit.ly/4hBErlN #GIMO #Diversity #DEI #UnderrepresentedInMedicine
October 24, 2025 at 10:09 PM
At ACMG 2023, a powerful plenary spotlighted the "#minoritytax" in medical genetics - prompting self-reflection, peer advocacy, and calls to transform this burden into "#minoritycapital." bit.ly/4hBErlN #GIMO #Diversity #DEI #UnderrepresentedInMedicine
Among Amish carriers of a #LongQTSyndrome founder variant, return of results was well received, but beta-blocker use was low, highlighting gaps in cascade testing and treatment uptake. bit.ly/3JedYOt #GIMO #KCNQ1 #OldOrderAmish #ReturnOfResults #CascadeScreening
October 17, 2025 at 7:16 PM
Among Amish carriers of a #LongQTSyndrome founder variant, return of results was well received, but beta-blocker use was low, highlighting gaps in cascade testing and treatment uptake. bit.ly/3JedYOt #GIMO #KCNQ1 #OldOrderAmish #ReturnOfResults #CascadeScreening
Analysis of over 2,700 rare disease patients shows that non-recurrent ROH >5 Mb, especially in underrepresented groups, can reveal deleterious homozygous variants, aiding diagnosis. bit.ly/3IMAoq1 #GIMO #Microarray #consanguinity #UniparentalDisomy #RecessiveDisorder
October 15, 2025 at 6:15 PM
Analysis of over 2,700 rare disease patients shows that non-recurrent ROH >5 Mb, especially in underrepresented groups, can reveal deleterious homozygous variants, aiding diagnosis. bit.ly/3IMAoq1 #GIMO #Microarray #consanguinity #UniparentalDisomy #RecessiveDisorder
Despite strong support for #pharmacogenomic testing in pediatric oncology, AYA patients and caregivers voiced concerns over data security and insurance, highlighting the need for inclusive, trust-building approaches. bit.ly/4n2oFkS #GIMO #Pharmacogenetics
October 14, 2025 at 9:20 PM
Despite strong support for #pharmacogenomic testing in pediatric oncology, AYA patients and caregivers voiced concerns over data security and insurance, highlighting the need for inclusive, trust-building approaches. bit.ly/4n2oFkS #GIMO #Pharmacogenetics
Parents across genetics, #oncology, and #prenatalcare see value in #genetictesting, but priorities differ. This highlights the need for setting-specific tools to measure personal utility. bit.ly/4nLLwTh #GIMO #PersonalUtility #ClinicalGenetics
October 10, 2025 at 6:06 PM
Parents across genetics, #oncology, and #prenatalcare see value in #genetictesting, but priorities differ. This highlights the need for setting-specific tools to measure personal utility. bit.ly/4nLLwTh #GIMO #PersonalUtility #ClinicalGenetics
GUÍA, an English/Spanish bilingual digital tool, boosts satisfaction and understanding of genomic results and offers an equitable model for diverse patient care. bit.ly/4mU9kTC #GIMO #GeneticCounseling #DigitalHealth #DigitalTools #GeneticTesting #GenomicMedicine
October 8, 2025 at 6:15 PM
GUÍA, an English/Spanish bilingual digital tool, boosts satisfaction and understanding of genomic results and offers an equitable model for diverse patient care. bit.ly/4mU9kTC #GIMO #GeneticCounseling #DigitalHealth #DigitalTools #GeneticTesting #GenomicMedicine
A new method using #replicationcyclereaction (RCR) to phase heterozygous variants up to 152 kb apart - enabling accurate cis/trans determination in autosomal recessive disease genes. bit.ly/48JUV8Z #GIMO #VariantPhasing #CompoundHeterozygosity
October 1, 2025 at 8:37 PM
A new method using #replicationcyclereaction (RCR) to phase heterozygous variants up to 152 kb apart - enabling accurate cis/trans determination in autosomal recessive disease genes. bit.ly/48JUV8Z #GIMO #VariantPhasing #CompoundHeterozygosity
This study demonstrated enhanced #structuralvariant (SV) detection by #genomesequencing (GS), supporting the utility of GS as the sequencing backbone to detect, characterize, and interpret SVs of cancer predisposition genes bit.ly/3VJwUqX #GIMO #CopyNumberVariant #DRAGEN
September 30, 2025 at 8:59 PM
This study demonstrated enhanced #structuralvariant (SV) detection by #genomesequencing (GS), supporting the utility of GS as the sequencing backbone to detect, characterize, and interpret SVs of cancer predisposition genes bit.ly/3VJwUqX #GIMO #CopyNumberVariant #DRAGEN
In vitro #fetalenrichment in cfDNA screening slashed #testfailure rates over 10-fold - ensuring timely, reliable results for all pregnancies, including those with high maternal BMI. bit.ly/3KpSVsA #GIMO #PrenatalCellFreeDNAScreening #RealLifeImplementationCohortStudy
September 29, 2025 at 7:17 PM
In vitro #fetalenrichment in cfDNA screening slashed #testfailure rates over 10-fold - ensuring timely, reliable results for all pregnancies, including those with high maternal BMI. bit.ly/3KpSVsA #GIMO #PrenatalCellFreeDNAScreening #RealLifeImplementationCohortStudy
New severity scores help non-invasively assess liver disease in pediatric GSD IX, while #liverbiopsy remains key for understanding fibrosis and guiding care. bit.ly/3VB0IpO #GIMO #GlycogenStorageDiseaseTypeIX #LiverDiseaseScoring #LiverFibrosis #LiverDiseaseSeverity
September 25, 2025 at 8:30 PM
New severity scores help non-invasively assess liver disease in pediatric GSD IX, while #liverbiopsy remains key for understanding fibrosis and guiding care. bit.ly/3VB0IpO #GIMO #GlycogenStorageDiseaseTypeIX #LiverDiseaseScoring #LiverFibrosis #LiverDiseaseSeverity
DNA-poli is a digital platform to digitalize the cascade genetic testing process in cardiogenetics. An RCT will test its potential to boost uptake while matching the quality of standard care. bit.ly/46hDdrY #GIMO #DigitalHealth #GeneticCarrierScreening #Cardiomyopathies
September 23, 2025 at 7:40 PM
DNA-poli is a digital platform to digitalize the cascade genetic testing process in cardiogenetics. An RCT will test its potential to boost uptake while matching the quality of standard care. bit.ly/46hDdrY #GIMO #DigitalHealth #GeneticCarrierScreening #Cardiomyopathies
Over half of cancers in relatives go undocumented in EHRs—risking missed chances to identify familial cancer risk and reduce preventable mortality. bit.ly/41GriRS #GIMO #FamilyHistory #CancerScreening #ElectronicHealthRecord #ClinicalDecisionSupport #Kinship
September 9, 2025 at 8:54 PM
Over half of cancers in relatives go undocumented in EHRs—risking missed chances to identify familial cancer risk and reduce preventable mortality. bit.ly/41GriRS #GIMO #FamilyHistory #CancerScreening #ElectronicHealthRecord #ClinicalDecisionSupport #Kinship
Experience from sub-Saharan Africa: trio exome sequencing in Mali reveals high diagnostic yield (38%) and genetic diversity in epilepsy, underscoring the need for more inclusive genomic research bit.ly/3VGcHCi #GIMO #ExomeSequencing #TrioAnalysis #Epilepsy #Mali #Africa
September 8, 2025 at 9:47 PM
Experience from sub-Saharan Africa: trio exome sequencing in Mali reveals high diagnostic yield (38%) and genetic diversity in epilepsy, underscoring the need for more inclusive genomic research bit.ly/3VGcHCi #GIMO #ExomeSequencing #TrioAnalysis #Epilepsy #Mali #Africa
Remote genome sequencing study for rare disease? A fully remote, patient-led #genomesequencing study proves feasibility and impact, empowering families with actionable results and genetic insights. bit.ly/46nyncu #GIMO #PraderWilliSyndrome #Pharmacogenomics
September 5, 2025 at 11:13 PM
Remote genome sequencing study for rare disease? A fully remote, patient-led #genomesequencing study proves feasibility and impact, empowering families with actionable results and genetic insights. bit.ly/46nyncu #GIMO #PraderWilliSyndrome #Pharmacogenomics
Over half of pathogenic variants in Emirati families are missing from global databases—highlighting the need for population-specific carrier screening to guide equitable public health strategies. bit.ly/4oISB7G #GIMO #GeneticVariation #RareGeneticDisorders
August 19, 2025 at 5:33 PM
Over half of pathogenic variants in Emirati families are missing from global databases—highlighting the need for population-specific carrier screening to guide equitable public health strategies. bit.ly/4oISB7G #GIMO #GeneticVariation #RareGeneticDisorders
Complex genetic landscape of familial #chylomicronaemia syndrome revealed in the UK population, with regional and ethnic variation and nearly half of FCS cases linked to non-LPL genes. bit.ly/3JjesT0 #GIMO #Hypertriglyceridaemia #AutosomalRecessive
August 14, 2025 at 9:11 PM
Complex genetic landscape of familial #chylomicronaemia syndrome revealed in the UK population, with regional and ethnic variation and nearly half of FCS cases linked to non-LPL genes. bit.ly/3JjesT0 #GIMO #Hypertriglyceridaemia #AutosomalRecessive