#WholeExomeSequencing
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epilepsiajournal.bsky.social
De novo missense variants in BAIAP2 identified in six patients with severe DEEs, featuring refractory epilepsy, developmental delays, and intellectual disability.
doi.org/10.1111/epi....

#epilepsy #ILAE #epilepsia #BAIAP2 #IRSp53 #DEE #intellectualdisability #wholeexomesequencing
November 6, 2025 at 5:08 PM
genseq.bsky.social
Explore our panels powered by whole exome sequencing on our website today 🔗https://genseqgroup.com/services/clinical/gene-panels/

#WholeExomeSequencing #GeneticTesting #WES #GeneticPanels #Genomics #Oncology #Cardiology #Hereditarycancer #Illumina #NGS #Nextgenerationsequencing
July 31, 2025 at 8:20 AM
genseq.bsky.social
WES vs. WGS: What’s the difference? 🧬
Look at the graphic below to learn the key differences! 👇

#Genetics #WES #WGS #GeneticTesting #PrecisionHealth #Wholeexomesequencing #Wholegenomesequencing #geneticsfacts #geneticseducation #codinggenes #genes #genomics #sciencefacts #science #DNA
June 5, 2025 at 8:12 AM
novogene-europe.bsky.social
Uncover genetic variations with our human whole exome sequencing (WES) services. Focus on coding regions to advance research in precision medicine, diagnostics, and more.

Learn more: bit.ly/3Br5Gz0

#WES #WholeExomeSequencing #Genomics #PrecisionMedicine #GeneticResearch #BiomedicalInnovation
May 30, 2025 at 6:43 AM
genseq.bsky.social
Ever wonder how we create our gene panels? 🧬 View our comprehensive list of gene panels on our website 💻https://genseqgroup.com/services/clinical/gene-panels/

#GeneticTesting #WES #wholeexomesequencing #bioinformatics #ISO15189 #CAP #Genetics #Geneticstestingireland #DNA #RNA #cancer #oncology
May 1, 2025 at 8:38 AM
novogene-europe.bsky.social
Unlock coding region insights with Novogene’s mouse whole exome sequencing (WES) services. Ideal for disease modeling, functional genomics, and drug development.

Learn more: bit.ly/3ZGdp4k

#MouseGenomics #WES #WholeExomeSequencing #FunctionalGenomics #Genomics #ResearchInnovation
April 14, 2025 at 7:48 AM
novogene-europe.bsky.social
Uncover genetic variations with Novogene’s human whole exome sequencing (WES) services. Focus on coding regions to advance research in precision medicine, diagnostics, and more. Learn more: bit.ly/3Br5Gz0

#WES #WholeExomeSequencing #Genomics #PrecisionMedicine #GeneticResearch #BiomedicalInnovation
April 8, 2025 at 7:20 AM
epilepsiajournal.bsky.social
Key point: Pathogenic variants in ATP6V0C can lead to a Dravet-like phenotype.
doi.org/10.1111/epi....

#epilepsy #ILAE #ATP6V0C #Dravetsyndrome #geneticepilepsy #parkinsonism #SCN1A #wholeexomesequencing
April 3, 2025 at 7:09 PM
natprot.nature.com
New Tutorial provides guidelines for quality filtering of whole-exome and #wholegenomesequencing data for population-scale association analyses bit.ly/4jivVrH #wholeexomesequencing
Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses - Nature Protocols
In this Tutorial, the authors provide guidelines for quality control of whole-exome and whole-genome sequencing data for population-scale association analyses. They explain how to filter samples and v...
bit.ly
April 2, 2025 at 1:19 PM
genseq.bsky.social
To learn more about our comprehensive hereditary cancer panel visit our website genseqgroup.com/services/cli... or get in touch via email at support@genseqgroup.com

#hereditarycancer #cancer#geneticstesting #genetics #genomics #wholeexomesequencing
#illumina #hereditarycancertesting #oncology
February 26, 2025 at 9:39 AM
genseq.bsky.social
Our team are excited to start on anew big project this week!

#genetics #genomics #geneticseducation #genetictesting #scientist #science #geneticslearning #genes #noninvasiveprenataltesting #singlegenetesting #wholeexomesequencing #DNAsequencing #Wholegenomesequencing #lab #laboratory
January 14, 2025 at 10:36 AM
genseq.bsky.social
We provide ISO15189:2022 Hereditary Cancer Testing!

#oncology #oncologists #hereditarycancer #cancer #breastcancer #wholeexomesequencing #genomics #genetics #geneticsireland #genomicsireland #hereditarydiseases #ISO15189
January 8, 2025 at 3:37 PM