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

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

Could methylation testing help identify fetal alcohol syndrome? bit.ly/46nsQ5Y #FASD #EpiSignature

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

With Infantile Krabbe disease now on the RUSP, #NewbornScreening labs use psychosine as second-tier testing to allow for timely detection of Infantile Krabbe disease bit.ly/4nRbaph

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

Study finds #NF1 is associated with a 2.5% 10‐year risk for #myocardial #infarction at age 50, suggesting that NF1 is a major risk factor for myocardial infarction. bit.ly/42J9jdI #coronaryarterydisease

Ending the diagnostic odyssey with a rule-based search algorithm? 'ThinkRare' identifies undiagnosed individuals with rare genetic disorders in an EMR bit.ly/489W3mj #bioinformatics

Novel recessive NDD with autism, ID, and spastic paraparesis associated with a founder variant in TBCB with high rate of heterozygosity in the Ashkenazi Jewish population bit.ly/41YZU1B

Genome sequencing costs for Indigenous children with #rarediseases match those of others, but bioinformatics costs are higher due to limited database representation. Enhancing diagnostic pathways can help close the genomic gap. bit.ly/42DOssj #Genomics #HealthEquity

What's new in #ophthalmogenetics? Rare MIR184 variants are associated with Fuchs endothelial corneal dystrophy bit.ly/46tATgt #microRNA

#Genomesequencing (GS) is more expensive than #exomesequencing but offers similar effectiveness. To maximize impact, GS should be reserved for patient groups where it can provide the greatest benefits such as by speeding up time to diagnosis. bit.ly/4mYJFda #raredisease

Who is getting BRCA testing? Has testing increased following expanded clinical indications? bit.ly/48dmpn5 #HealthcareUtilization #CancerPredisposition

De novo XPO1 variants cause a novel autosomal dominant neurodevelopmental disorder bit.ly/4nvs4cQ #Neurogenetics

In safety net NICUs, customized genomic reports empowered non-genetics providers and supported better care for critically ill infants. Patient-centered design advancing equity in genomic medicine. bit.ly/460WL3L #NICU #Genomics #HealthEquity

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

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

Study highlights clinical and genetic spectrum of Fanconi anaemia in Australia and NZ, urging increased testing and awareness for diagnosis and management. bit.ly/4g65S6p #GIMO #FanconiAnaemia #FanconiAnemia #ChromosomeFragilityTest #ChromosomeBreakageTest #DNARepair

Looking beyond the U.S. - What are the unmet needs of the PKU community worldwide? bit.ly/4oXCV0D #NewbornScreening #Phenylketonuria

DMD duplications on carrier screening are not always pathogenic. Many are interspersed and benign. Assuming tandem equals disease risks misclassification. Long read sequencing reveals structure and can prevent unnecessary interventions. bit.ly/3HI4b2v

In TSC, facial angiofibromas (FAF) and ungual fibromas (UF) follow distinct mutational routes—UV-driven in FAF, aging-related in UF. Recurrent KMT2C inactivation in FAF refines second-hit biology beyond TSC1/TSC2. bit.ly/4oOZZOZ

Why do some joints fuse after forming normally? FBN2 variants disrupt ECM, driving articular cells into bone. Data support haploinsufficiency, possible dominant negative effects and variable expressivity. Carpal and tarsal joints should be assessed. bit.ly/3Vk03J0

Large-scale look at genomic newborn screening in the UK shows: ✅ Automated pipelines + manual review can scale to 100k babies ✅ High specificity (~97%) keeps false positives low ⚠️ Sensitivity (~80%) needs improvement for diverse variants bit.ly/4mOPxW2

Some limitations of #variant #classification and suggestions to move closer to delivering on the promise of #precision #genomic medicine bit.ly/41O5i7l

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

#GeneticWorkforce limitations call for paradigm shifts. “Genetics First,” program empowers non-geneticist physicians to play an active role in the process of genetic consultation and testing. bit.ly/4lEDv0p #GeneticEducation #TestingAccessibility

Now available online the August episode of GenePod! Learn more about how Rhys Dore and his team gathered patients with variants in ELFN1 from around the world bit.ly/4lxRNzH

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

Two sides of the same coin. There is a need to align #PGx resources with clinical genomics resources to better integrate #PGx into clinical practice. bit.ly/4mGeK4U #pharmacogenomics #ClinGen #ClinPGx #precisionmedicine

Serum NfL levels are elevated in NPC1 and correlate with disease severity—supporting its use as a biomarker for monitoring progression and treatment response in clinical trials. bit.ly/4fyjY09 #GIMO #NiemannPickDisease #TypeC1 #Serum #NeurofilamentLight

Recessive FANCM #CancerPredisposition syndrome, distinct from #FanconiAnemia, is associated with susceptibility to #HeadandNeckCancer and #ChemotherapyToxicity. bit.ly/45tgsiT

Out of sight out of mind. Shortening the time from consent to #results return may improve uptake of #secondaryfindings return. bit.ly/4ftAqPn #variantclassification

Launching standardized #genetictesting guidelines for CKD improved early diagnosis, streamline care, and equitable access to personalized treatment across Ontario, Canada. bit.ly/3H24nt9 #GIMO #ChronicKidneyDisease #MonogenicKidneyDisease #Nephrogenetics

Don't forget to offer genetic testing to individuals with #dementia - consider a higher cutoff of 65y for early-onset dementia. bit.ly/45vCRwm #MemoryClinic #NeuroGenetics

Scoping review shows cardiovascular #genetictesting by non-genetics clinicians is limited; key barriers include education and cost, calling for targeted research and policy engagement. bit.ly/4on0kbx #GIMO #ImplementationScience #Barriers #Facilitators #Cardiovascular

Neurogenetics alert! Guidelines for diagnosis and management of COL4A1 and COL4A2-related disorders. bit.ly/453mgRt #SmallVesselDisease #cerebrovascular

Now available online: our full August issue! Read more here: bit.ly/44Z6LKc

More than meets the eye? Biallelic LoF variants in POC5 cause more than retinitis pigmentosa. Explore this novel syndromic ciliopathy with #endocrine and #neuromuscular findings. bit.ly/4me86Dj

How to conduct #cascadescreening that bridges research and clinical settings? Ethical tensions and logistical hurdles are revealed and further guidance are needed. bit.ly/3IU6rnt #GIMO #FamilyCommunication #ELSIIssues #GeneticCounseling #GeneticTesting

Don’t miss this free, live webinar on July 30: "Advancing platform genomic therapies for inborn errors of metabolism” presented by @GIMJournal Register today! bit.ly/4lPNsZv #InbornErrorsofMetabolism #GeneEditing

When is #GenomicSequencing useful in the NICU? The Clinician-reported Genetic testing Utility InDex (C-GUIDE) NICU can help assess its clinical utility. bit.ly/3UANXuE

Neurogenetics alert! Biallelic loss of function variants in ELFN1 cause a neurodevelopmental disorder with DD/ID, seizures and movement disorder. bit.ly/4lLrZ46

What role does the distinction between conditions and traits play in defining #eugenics? Study explores possible impact on genomics-based embryo selection. bit.ly/4kUtLi4 #Genomics #Ethics #IVF

Join us on Wednesday, July 30th for a free webinar, "Advancing platform genomic therapies for inborn errors of metabolism” with speaker Rebecca Ahrens-Nicklas, MD, PhD. Register now at this link: bit.ly/4lPNsZv #InbornErrorsofMetabolism #GeneEditing

More than just 'subjects'. The future of research requires optimizing participant #engagement. bit.ly/4f2O1g7 #cancer #genetics

Interested in ketone body metabolism? Dive into this update on Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency. bit.ly/454eCFd #raredisease

Is it worth it? Return of additional findings following genomic sequencing may not be #costeffective. bit.ly/4f37v4y #100kGP #healtheconomics #secondaryfindings

Clinical Conundrum. #DIS3L2 (L)PVs are a novel contributor to the #Wilmstumor #predisposition spectrum but do not present a clinically recognizable phenotype. bit.ly/3TLI8dG #pediatrics #cancer