Genetics of infertility: Rare de novo EMX2 variants cause hypogonadotropic hypogonadism, developmental delay and hearing loss. bit.ly/3MV47P5 #GeneticsInFertility #exome
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#Exome
Latest posts tagged with #Exome on Bluesky
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(a) Pedigree of Family-1 segregating c.1579C > T; p.Pro527Ser novel ADGRG1 variant. (b) Pedigree of Family-2 segregating c.649A > C; p.Met217Leu variant. (c) Pedigree of Family-3 segregating c.722T > G; p.Leu241Ter variant. (d) Genomic location at chr16 and a part of the sequence chromatogram showing the c.1579C > T variant in ADGRG1 gene associated with bilateral frontoparietal polymicrogyria (BFPP); the mother was a heterozygous carrier, whereas the unaffected sibling was homozygous normal and the affected individuals were homozygous mutant for this ADGRG1 variant. (e) Genomic location at chr16 and a part of the sequence chromatogram showing the c.649A > C variant in KAT8 gene associated with LIGOWS syndrome (syndromic intellectual disability); unaffected individuals of the family were heterozygous carriers, and the affected individuals were homozygous mutants for this KAT8 variant. (f) Genomic location at chr7 and a part of sequence chromatogram showing the c.722T > G variant in FAM126A gene associated with hypomyelination and congenital cataract; unaffected individuals of the family were heterozygous carriers, and the affected individual was homozygous mutant for this FAM126A variant.
An Early View: #Exome sequencing of three rare neurological disorders in three unrelated Pakistani families revealed novel pathogenic variants in ADGRG1, KAT8, and FAM126A, expanding the allelic and geographic spectrum of neurological disorders.
🔗: onlinelibrary.wiley.com/doi/10.1111/...
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The power of #MachineLearning for ACMG/AMP PM1 criterion: HCSeeker can identify hot spots and cold spots in 889 genes bit.ly/3JrQFRe #genome #exome
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An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser. #Exome #Genome #Sequencing #GeneticVariants #RareDiseases #GeneticDiagnostics #GenomeMedicine 🧪🧬 🖥️
genomemedicine.biomedcentral.com/articles/10....
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Performance comparison of four exome capture platforms on DNBSEQ-Series high throughput sequencer. #Exome #Sequencing #Benchmarking #DNBSEQ #Genomics #BMCgenomics 🧪🧬 🖥️
bmcgenomics.biomedcentral.com/articles/10....
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Figure 3 Scheme of gene interactions according to the String database: (A) genes associated with no response; (B) genes associated with good response (disconnected nodes were hidden from the network).
An Early View: Whole #exome sequencing in locally advanced rectal #cancer (LARC) reveals variants in SLC16A6 & SLC25A2 linked with poor neoadjuvant chemoradiotherapy (nCRT) response.
Findings point towards variants as predictors for tailored nCRT in LARC.
onlinelibrary.wiley.com/doi/10.1111/...
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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. #genetics bit.ly/40jQv3C
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Very excited to see this work comes out ad preprint! An elegant strategy discovering novel recessive signals in Exome sequencing dataset of the British South Asian population 🧬
#bioinformatics #exome #DNA #datascience #genomics #genetics
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Should X-linked Adrenoleukodystrophy be included in the list of disorders recommended for reporting as #secondaryfindings on #exome and #genome sequencing? bit.ly/4jdiNUb #XALD #Leukodystrophy
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What do parents really think about #genome and #exome sequencing in the NICU? @KPCallahanMD bit.ly/4224T1P
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Thanks to all the authors for choosing Twist products to support their work! 🧬
@twistbioscience.com, #DNA, #exome, #gene
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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
twitch.tv/kawaii_mochi...
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Large UK biobank #exome sequencing study identifies gene variants associated with socioeconomic status (income, education,...). (No, these variants do *not determine* your income.) #genetics #sociology
www.pnas.org/doi/abs/10.1073/pnas.241...
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Presenting 3 works using #Nextflow to analyse exome (Sarek's Pipeline) by Cell Death Receptors, Mammaprint panel Genes and Oncotype DX panel Genes. Simpósio realised on Ribeirão Preto - Brasil about Susceptibilidade Genética Aplicada à Saúde.
#NGS #exome #Nextflow #GenomasSUS #GenomasBrasil
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