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GenomicsA Comparative Analysis of Algorithms for Somatic SNV Detection in Cancer
Four recently published algorithms for the detection of somatic SNV sites in matched cancer-normal sequencing datasets are VarScan, SomaticSniper, JointSNVMix and Strelka. In this analysis, we apply these four SNV calling algorithms to cancer- normal Illumina exome sequencing of a chronic myeloid le...
EGAS00001000927 | EGA
GenomicsEffect of PTCHD1 SNV and truncating variants on gene expression during differentiation of iPSCs to neural progenitor cells
Effect of PTCHD1 SNV and truncating variants on gene expression during differentiation of iPSCs to neural progenitor cells
PRJNA946696 | ENA
GenomicsGermline snv g.vcf for EGAS00001004572 - samples
Bulk Germline snv vcfs from haplotypecaller analysis in EGAS00001004572
EGAD00001006910 | EGA
TranscriptomicsEffect of PTCHD1 SNV and truncating variants on gene expression during differentiation of iPSCs to neural progenitor cells
To investigate whether a SNV in the gene PTCHD1 was disease causative, we introduced the variant to KOLF-2 iPSCs via CRISPR/Cas9 homology directed repair. Three experimentally matched SNV and WT clones and two clones with truncating mutations were generated, and neural induction was induced. We then...
ORGANISM(S): Homo sapiens 
2023-11-19 | GSE227711 | GEO
GenomicsSNV microarray data from "Genome-edited cardiac models reveal combinatorial genetic interactions in human cardiomyopathy" by Deacon et al
SNV microarray data from "Genome-edited cardiac models reveal combinatorial genetic interactions in human cardiomyopathy" by Deacon et al
PRJNA498621 | ENA
UnknownSNV identification from single-cell RNA sequencing data.
Not available
S-EPMC7279618 | biostudies-literature
TranscriptomicsInter- and intra-lineage genetic diversity of wild-type Zika viruses reveals both common and distinctive nucleotide variants and clusters of genomic diversity
ZIKV strains belong to three phylogenetic lineages: East African, West African, and Asian/American. RNA virus genomes exist as populations of genetically-related sequences whose heterogeneity may impact viral fitness, evolution, and virulence. The genetic diversity of representative ZIKVs (N=7) fro...
ORGANISM(S): Zika virus 
2019-07-30 | E-MTAB-7771 | biostudies-arrayexpress
UnknownVarCon: An R Package for Retrieving Neighboring Nucleotides of an SNV.
Not available
S-EPMC7691889 | biostudies-literature
Genomics
GenomeDK Release 1 SNV calls
PRJEB8650 | ENA
GenomicsStrelka somatic snv vcfs for EGAS00001004572 - samples
Bulk Strelka somatic snv vcfs from tumour-normal analysis in EGAS00001004572
EGAD00001006907 | EGA
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