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GenomicsA Titin Missense Variant Causes Atrial Fibrillation
A Titin Missense Variant Causes Atrial Fibrillation
PRJNA1377605 | ENA
TranscriptomicsTargeted exome sequencing of 69 human melanoma brain metastases
In-depth information regarding the DFCI OncoPanel sequencing panel has been described previously. Briefly, sequencing is performed using an Illumina HiSeq 2500 system (RRID:SCR_016383) with 2×100 paired-end reads. Samples must meet an average 50X coverage and minimum of 30X coverage for 80% of targe...
ORGANISM(S): Homo sapiens 
2024-11-21 | E-MTAB-14575 | biostudies-arrayexpress
ProteomicsMulti-omic stratification of the missense variant cysteinome
Cancer genomes are rife with genetic variants; one key outcome of this variation is gain-of-cysteine, which is the most frequently acquired amino acid due to missense variants in COSMIC. Acquired cysteines are also both driver mutations and sites targeted by precision therapies. However, despite the...
ORGANISM(S): Homo sapiens (Human) 
2024-10-03 | PXD043879 | Pride
Cancer Proteogenomics Drug Proteomics Mass spectrometry Chemical proteomics Biology Lc-ms/ms Mutation 
TranscriptomicsA Titin Missense Variant Causes Atrial Fibrillation
A single TTN point mutation- a missense variant ( TTN-T32756I) can impair sarcomere integrity and lead to atrial electrical remodeling, increasing AF- A link that needs investigation
ORGANISM(S): Homo sapiens 
2025-12-08 | GSE312917 | GEO
UnknownAlagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Not available
S-EPMC6899717 | biostudies-literature
TranscriptomicsAn integrated transcriptome and expressed variant analysis of sepsis survival and death
Background: Sepsis, a leading cause of morbidity and mortality, is not a homogeneous disease but rather a syndrome encompassing many heterogeneous pathophysiologies. Patient factors including genetics predispose to poor outcomes, though current clinical characterizations fail to identify those at gr...
ORGANISM(S): Homo sapiens 
2015-01-01 | E-GEOD-63042 | biostudies-arrayexpress
TranscriptomicsA specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors
Next generation sequencing of 28 thymic epithelial tumors (TETs) revealed a high frequency of GTF2I missense mutation (chr7:74146970T/A) in A thymomas, a relatively indolent subtype. The GTF2I mutation was confirmed in 82% of A and 74% of AB thymomas in a series of 274 TETs but was rare in aggressi...
ORGANISM(S): Homo sapiens 
2014-06-24 | E-GEOD-57892 | biostudies-arrayexpress
GenomicsA novel cardiomyopathy phenotype linked to missense mutation of CHD7
A novel cardiomyopathy phenotype linked to missense mutation of CHD7
PRJNA1240200 | ENA
UnknownRe-evaluation of missense variant classifications in NF2.
Not available
S-EPMC9323416 | biostudies-literature
UnknownMiddle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation.
Not available
S-EPMC7364085 | biostudies-literature
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