Top Tweets for #EXOME
First tier rapid #exome/#genome #sequencing showed strong #diagnostic yield across #hospitalized #children, including non-ICU wards and failure to thrive admissions. https://t.co/Gf7qgUd3gv
It’s all about synergy. #Exome/#genome sequencing can identify #pathogenic #variants but may miss their functional impact. Adding #RNA-seq helps close that gap. https://t.co/JTO6xyce0J #diagnosticutility
#Exome sequencing can stratify the genetic risk of #CeliacDisease among first-degree relatives of affected individuals. Talha Asif, Xiao-Fei Kong et al. @UTSWMedCenter find that about 10% of first-degree relatives carry a particularly high genetic risk. https://t.co/nllaqgcZdX
Excited to share this new preprint from a large collaborative effort using #exome + #genome sequencing, moving beyond GWAS to implicate 68 genes in #IBD through rare protein-coding variation.
https://t.co/K1Gcfr09B6
@broadinstitute
@MGHMolBio
@MGBResearchNews
Don’t put off 'til tomorrow what you can do today. Study findings support implementation of more frequent #exome #reanalysis to improve diagnostic yield #precisionmedicine https://t.co/LuiFms6Zv9
Time for an update? Research #exome #sequencing can achieve up to 95% sensitivity in detecting #PKD1 variants, rivaling traditional methods. https://t.co/MaPjI3rKjX #AKPKD #Pseudogenes
Genetics of infertility: Rare de novo EMX2 variants cause hypogonadotropic hypogonadism, developmental delay and hearing loss. https://t.co/64p5dWTbWf #GeneticsInFertility #exome @MariaStamou8
Could WES testing reduce the residual risk of monogenic diseases in fetuses with increased NT? Summary of a study in @AJOG_thegray
https://t.co/eCN31ixqqM
#EvidenceMatters #Exome #genetics #womenshealth
#Exome-wide Analysis Identifies a Rare #EXD3 Missense Variant Associated With #Diabetic #Kidney Disease
#VisualAbstract by @stephanietr612
https://t.co/4LMxLYpnJG
@NiinaSandholm
The power of #MachineLearning for ACMG/AMP PM1 criterion: HCSeeker can identify hot spots and cold spots in 889 genes https://t.co/od7x5AkkXu #genome #exome
Just published! ACMG SF v3.3 list for reporting of secondary findings in clinical #exome and #genome #sequencing. This 2025 update adds 3 genes - ABCD1, CYP27A1, and PLN - to the recommended minimum gene list with a description of the factors considered. https://t.co/vDiYhQ0alz
Very cool study that discovers novel recessive signals in a Exome sequencing of British South Asians population! 🧬
#Bioinformatics #exome #exomesequencing #populationgenetics #Genetics #datascience
Preprint alert! 🚨
Our manuscript on Exome sequencing and analysis of 44,028 British South Asians (Genes & Health) is now live @medrxivpreprint! Among great findings, and I’m thrilled to highlight the pieces I worked on 🧵
https://t.co/ZEmP9ESv6o
60% of #rarediseases remain unsolved after #exome & #genome sequencing.
Blood #RNA-seq is highly effective in identifying splicing VUS leading to reclassification and diagnosis but shows a more modest yield without prior candidate variants @TranslationalM5 https://t.co/0pd9UxXi8F
💡#LastestPaper
📕A Pilot Study: Contrasting Genomic Profiles of #Lung #Adenocarcinoma Between Patients of European and Latin American Ancestry
🧑🔬By Dr. Jorge Melendez-Zajgla, et al.
🔗Read full paper: https://t.co/IxcjoP2pqe
#NSCLC #lungcancer #genome #genomicprofile #exome
Should X-linked Adrenoleukodystrophy be included in the list of disorders recommended for reporting as #secondaryfindings on #exome and #genome sequencing? https://t.co/3x74ily5oY #XALD #Leukodystrophy
What is #exome #sequencing and why does it matter for prenatal diagnosis? A quick review
https://t.co/gOzpYs6Xrd
#meded #maternalhealth #ObGyn
What's the incremental yield of #exome sequencing in fetuses with skeletal abnormalities and a negative result on chromosome microarray? Our review of a meta-analysis published in @AOGS_tweets
https://t.co/5eaycyKeMY
#EvidenceMatters #genetics #fetalhealth #ObGyn
What do parents really think about #genome and #exome sequencing in the NICU? @KPCallahanMD https://t.co/yXHL0lwdFU
Happy Saturday! Collab stream night with SexyPk, Ghoul, and CoyoteDangerfield 🎮 playing a new game to us: Exome! I have no idea what I’m doing so this’ll be fun! Come say hi! 💜 #twitchstreamer #twitchaffiliate #smallstreamer #SupportSmallStreamers #exome
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