Molecular Genetic Testing in Middle East (@ArabGenetic) header
Molecular Genetic Testing in Middle East (@ArabGenetic) profile picture

Molecular Genetic Testing in Middle East

@ArabGenetic

Discuss Molecular Genetic testing for Genetic Diseases & Oncology

Joined February 2018
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Photo by Molecular Genetic Testing in Middle East (@ArabGenetic)Photo by Molecular Genetic Testing in Middle East (@ArabGenetic)Photo by Molecular Genetic Testing in Middle East (@ArabGenetic)Photo by Molecular Genetic Testing in Middle East (@ArabGenetic)Photo by Molecular Genetic Testing in Middle East (@ArabGenetic)Photo by Molecular Genetic Testing in Middle East (@ArabGenetic)Photo by Molecular Genetic Testing in Middle East (@ArabGenetic)Photo by Molecular Genetic Testing in Middle East (@ArabGenetic)Photo by Molecular Genetic Testing in Middle East (@ArabGenetic)Photo by Molecular Genetic Testing in Middle East (@ArabGenetic)
Molecular Genetic Testing in Middle East retweeted
Vinod Scaria (@vinodscaria) profile picture
Vinod Scaria@vinodscaria16 Jan 2021
Announcing DALIA- a Comprehensive Resource of Genetic Disease variants in Arab Population journals.plos.org/plosone/ar…
Image from Vinod Scaria (@vinodscaria)
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Molecular Genetic Testing in Middle East retweeted
Arab Genomic Studies (@CAGS_UAE) profile picture
Arab Genomic Studies@CAGS_UAE24 Jan 2021
Article highlights the scarce representation of Middle Eastern genetic variants in publicly available genomic datasets, such as gnomAD: genomemedicine.biomedcentral… #database #gnomad #genomic #gwas #arab #middleeastern #MENA #genetics #variant #mutation #data #bigdata.
Genetic variation in the Middle East—an opportunity to advance the human genetics field

Genetic variation in the Middle East—an opportunity to advance the human genetics field

Genome Medicine - We highlight the current lack of representation of the Middle East from large genomic studies and emphasize the expected high impact of cataloging its variation. We discuss the...

link.springer.com
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Molecular Genetic Testing in Middle East retweeted
Arab Genomic Studies (@CAGS_UAE) profile picture
Arab Genomic Studies@CAGS_UAE21 Jun 2020
Study finds that young adults who acquire fewer mutations over time live about five years longer than those who acquire them more rapidly. #aging #mutation neurosciencenews.com/genetic…
The rate we acquire genetic mutations could help predict lifespan and fertility - Neuroscience News

The rate we acquire genetic mutations could help predict lifespan and fertility - Neuroscience News

Young adults who acquire fewer genetic mutations over time lived five years longer than those who acquired them more rapidly.

neurosciencenews.com
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Molecular Genetic Testing in Middle East retweeted
Fowzan S Alkuraya (@alkuraya) profile picture
Fowzan S Alkuraya@alkuraya19 Jun 2020
آخر أوراقنا البحثية و التي تمثل أكبر دراسة من نوعها لاضطرابات الحمض النووي الريبي RNA المتعلقة بالأمراض الوراثية المندلية عند البشر و التي نطمح لأن تساعد في تسريع و زيادة دقة التشخيص لهؤلاء المرضى شفاهم الله genomebiology.biomedcentral.…
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based...

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based...

Genome Biology - At least 50% of patients with suspected Mendelian disorders remain undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding variants that are not captured...

link.springer.com
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Molecular Genetic Testing in Middle East retweeted
Lamia Fahad Alsubaie (@Lamia_Alsubaie) profile picture
Lamia Fahad Alsubaie@Lamia_Alsubaie2 Jun 2020
استطاع فريقنا من إثبات أن الطفرة الوراثية في جين MEFV هي طفرة حميدة لا علاقة لها بحمى البحر الأبيض المتوسط بخلاف مايعتقده المجتمع العلمي الوراثي الدولي أنها طفرة وراثية مرضية مسببة للمرض تم التوصل لهذه النتيجة بناء على قاعدة البيانات الوراثية المحلية للمجتمع السعودي! المقالة👇🏻 – at Riyadh, Kingdom of Saudi Arabia
Lamia Fahad Alsubaie (@Lamia_Alsubaie) profile pictureLamia Fahad Alsubaie@Lamia_Alsubaie2 Jun 2020
We were able to downgrade the classification of previously well-known established MEFV variant (c.2230G>T) from pathogenic to likely benign! which emphasizes the impact of studying closed population on the global healthcare! Published in @AHGEditor #GCchat pubmed.ncbi.nlm.nih.gov/3240…
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack...

MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack...

Conflicting evidence about variants creates challenges for testing laboratories and impacts patient care. Sharing information drawn mainly from underrepresented populations and clinical phenotyping...

pubmed.ncbi.nlm.nih.gov
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Molecular Genetic Testing in Middle East retweeted
ClinGen (@ClinGenResource) profile picture
ClinGen@ClinGenResource18 Feb 2020
This week's ClinGen's CNV Technical Standards web series topic is "Resources for Population CNV Data: gnomAD SV" presented by @RyanLCollins13 from @broadinstitute on Thur Feb 20th 2pm ET clinicalgenome.org/tools/cnv…
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Molecular Genetic Testing in Middle East retweeted
Gemma Chandratillake (@GemmaChand) profile picture
Gemma Chandratillake@GemmaChand5 Feb 2020
Our #openaccess paper on designing genetic test reports for non-specialists and patients is just out! @EMEE_GLH @_EEGMC @NHSgms @genomicsedu @theAGNC #gcchat @GeneticCouns @Cambridge_Uni @acgs_news @BritSocGenMed nature.com/articles/s41431-0…
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Molecular Genetic Testing in Middle East retweeted
Fuad Gwadry (@fuadgwadry) profile picture
Fuad Gwadry@fuadgwadry27 Jan 2020
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging pnas.org/content/early/2020/… #PrecisionMedicine
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced...

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced...

Genome sequencing has established clinical utility for rare disease diagnosis. While increasing numbers of individuals have undergone elective geno...

pnas.org
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Molecular Genetic Testing in Middle East retweeted
Genetics in Medicine (@GIMJournal) profile picture
Genetics in Medicine@GIMJournal27 Jan 2020
Improving variant classification of #BRCA1 and #BRCA2 missense VUS recognizing that "coldspots" do not typically harbor disease causing variants go.nature.com/37xlZWz
Image from Genetics in Medicine (@GIMJournal)
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Molecular Genetic Testing in Middle East retweeted
Genetics in Medicine (@GIMJournal) profile picture
Genetics in Medicine@GIMJournal22 Jan 2020
Female FMR1 premutation carriers can experience health issues beyond the previously well-established premutation-associated disorders go.nature.com/3aykpFV #FragileX #WomensHealth
Image from Genetics in Medicine (@GIMJournal)
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Molecular Genetic Testing in Middle East retweeted
Inside Precision Medicine (@Inside_PM) profile picture
Inside Precision Medicine@Inside_PM23 Jan 2020
. @QuestDX Acquires Rare Disease Diagnostics Company @BpGenetics: ow.ly/xqsP50y35ta
Image from Inside Precision Medicine (@Inside_PM)
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زيادة التعبير عن البروتين المناعي C4 قد يسبب مرض انفصام الشخصية Increased Expression of C4 May Cause Schizophrenia - pos.li/2eoplw via @shareaholic
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Molecular Genetic Testing in Middle East retweeted
Genetics in Medicine (@GIMJournal) profile picture
Genetics in Medicine@GIMJournal16 Jan 2020
Family and personal history of cancer informs the pathogenicity of variants of unknown significance in #BRCA1 and #BRCA2 go.nature.com/2Rn87Y9 #BreastCancer #OvarianCancer #BeBRCAware
Image from Genetics in Medicine (@GIMJournal)
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Molecular Genetic Testing in Middle East retweeted
Rady Genomics (@RadyGenomics) profile picture
Rady Genomics@RadyGenomics15 Jan 2020
In this recent piece in @sciam, two of our NSIGHT collaborators make a good case for targeted #sequencing of newborns in the NICU whose critical condition is a puzzle. bit.ly/35J8di0 #GenomicMedicine #genomics #WholeGenomeSequencing
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Molecular Genetic Testing in Middle East retweeted
Inside Precision Medicine (@Inside_PM) profile picture
Inside Precision Medicine@Inside_PM11 Jan 2020
Whole Exome Sequencing May Skip Large Segments of DNA: ow.ly/K5NA50xO8PO
Image from Inside Precision Medicine (@Inside_PM)
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Molecular Genetic Testing in Middle East retweeted
Linnea Baudhuin, PhD 🧬 (@LinneaBaudhuin) profile picture
Linnea Baudhuin, PhD 🧬@LinneaBaudhuin9 Jan 2020
Editorial on #Exome inconsistencies that @cmarcouphd and I wrote from @mayocliniclabs @mayoclinic "All Clinical Exomes Are Not Alike: Coverage Matters" academic.oup.com/clinchem/ar… based on academic.oup.com/clinchem/ar… #DNA #Genetics #Genomics #LabMed #MedEd
All Clinical Exomes Are Not Alike: Coverage Matters

All Clinical Exomes Are Not Alike: Coverage Matters

Over the past decade, uptake of exome sequencing for medical diagnosis has been steadily on the rise, and numerous clinical laboratories now offer exome te

academic.oup.com
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Molecular Genetic Testing in Middle East retweeted
Genetics watch (@Geneticswatch) profile picture
Genetics watch@Geneticswatch12 Dec 2019
Genetic mutation linked to increased risk of heart failure in black people - Laredo Morning Times dlvr.it/RL6Tq2
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Molecular Genetic Testing in Middle East retweeted
Genetic Counselors (@GeneticCouns) profile picture
Genetic Counselors@GeneticCouns6 Dec 2019
The use of genetic testing continues to grow requiring more medical professionals to be available to provide guidance to patients. A new model hopes to improve access by expanding primary care physicians' role in genetic testing. bit.ly/2OeQhF4 #GCchat
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Molecular Genetic Testing in Middle East retweeted
Inside Precision Medicine (@Inside_PM) profile picture
Inside Precision Medicine@Inside_PM6 Dec 2019
Blood Test that Measures Expression of 5,000 Proteins Shows Potential as Disease Screening Tool: ow.ly/llvg50xsiON
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Molecular Genetic Testing in Middle East retweeted
ClinGen (@ClinGenResource) profile picture
ClinGen@ClinGenResource2 Dec 2019
ClinGen will host a web series to educate the community about the newly released @TheACMG and ClinGen technical standards for interpretation and reporting of constitutional copy number variants (CNVs) starting Jan 16, learn more bit.ly/cnvseries
Image from ClinGen (@ClinGenResource)
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