Molecular genetic pathologist at St Jude Children's Research Hospital
Memphis, TN
Joined October 2015
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I'm pleased to share our study assessing the impact of the Bayesian point-based system on the variant classification of hereditary cancer predisposition genes. The point system can reduce the VUS rate and assist in their sub-tiering.
#genetics #molpath #ACMG #AMP #ClinGen
There is always room for improvement! Bayesian point system reduces #VUS rates for #cancer predisposition genes compared to the #ACMG/AMP2015 guidelines bit.ly/48Cct4W @m_eldomery
ALT Screenshot of Figure 2: Sankey figures summarizing the classification changes between the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP 2015) guidelines and the point system for unique variants with discordant calls. A. Unique variants with discordant classifications between the ACMG/AMP 2015 guidelines and the point system that have harbored the original evidence codes. B. Unique variants with discordant calls between the 2 scoring methods that have at least 1 modified evidence code strength.
Mohammad Eldomery retweeted
We are excited to announce the new CADD v1.7 and ClinGen CSpec tracks for GRCh37/hg19 and GRCh38/hg38 genomes. More information is available at genome.ucsc.edu/goldenPath/n….
Mohammad Eldomery retweeted
Doing good science is 90% finding a science buddy to constantly talk to about the project.
Mohammad Eldomery retweeted
🎖️Congratulations to James R. Lupski, MD, PhD, DSc, winner of the ASHG 2024 Lifetime Achievement Award! Learn more about the award and Dr. Lupski's work: ashg.org/publications-news/p…
ALT 2024 ASHG Lifetime Achievement Award James R. Lupski, MD, PhD, DSc
Mohammad Eldomery retweeted
Read an interview with Dr. J Luspki @LupskiLab when he presented the #MendelLecture and learn about his inspiration to pursue a life-long career in #genetics. #ESHG2024 @bcmhouston @bcmgenetics @BCM_HGSC @BCMGradSchool @BCM_MSTP @BCM_GradDiverse 2024.eshg.org/speakers/speak…
Mohammad Eldomery retweeted
Evaluation of Bayesian Classification Framework on the Variant Classification of Hereditary Cancer Predisposition Genes medrxiv.org/cgi/content/shor… #medRxiv
Mohammad Eldomery retweeted
Postdocs! Interested in genomic #StructuralVariation? How about using cutting edge technology at @TXMedCenter to understand #HumanDisease? Join us in the @LupskiLab at @bcmhouston! Apply today 👉🏼nature.com/naturecareers/job… @bcmgenetics @GREGoR_research @BCMFromtheLabs
Mohammad Eldomery retweeted
We just released a big OncoKB update: 13 new curated genes, updated SOP (v3) and FAQs, and we now also include detailed mutation effect descriptions on our website. oncokb.org/news
Mohammad Eldomery retweeted
John - appreciate the rant. We are updating the ACMG guidelines (joint effort with ClinGen, AMP and CAP. Should be another session on the update at ACMG 2023. Even the 2015 guidelines not that it is the labs final assessment. A few more specific comments. 1/n
Mohammad Eldomery retweeted
Analytical tool predicts disease causing genes | Baylor College of Medicine | Houston, Texas bcm.edu/news/molecular-and-h… via @bcmhouston
Mohammad Eldomery retweeted
Very nice paper and a great tool to predict Alu-Alu mediated rearrangements (AAMR) and AAMR hotspot genes thanks to all of the work done by @song_xiaofei @christinerbeck
alualucnvpredictor.research.…
genome.cshlp.org/content/28/…
Mohammad Eldomery retweeted
60yrs on the planet, 30 at BCM. 700 papers, tens of fortunate, appreciative trainees. Chapeau! Professa Lupski
Mohammad Eldomery retweeted
Watch the video - Bridging the gap between discovery and application to diagnose genetic disease: bit.ly/2qrusIs @GenomeMedicine
Mohammad Eldomery retweeted
Clinical #genomics: Lessons learned from additional research analyses of unsolved clinical #exome cases bit.ly/2mM2HV9
