Reconstruction of clone- and haplotype-specific cancer genome karyotypes from bulk tumor samples.
Sign Up to like & getrecommendations! Published in 2020 at "Genome research"
DOI: 10.1101/gr.256701.119
Abstract: Many cancer genomes are extensively rearranged with aberrant chromosomal karyotypes. Deriving these karyotypes from high-throughput DNA sequencing of bulk tumor samples is complicated because most tumors are a heterogeneous mixture of normal cells and subpopulations… read more here.
Keywords: cancer; haplotype specific; bulk tumor; dna sequencing ... See more keywords
Haplotype-specific MAPT exon 3 expression regulated by common intronic polymorphisms associated with Parkinsonian disorders
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Neurodegeneration"
DOI: 10.1186/s13024-017-0224-6
Abstract: BackgroundGenome wide association studies have identified microtubule associated protein tau (MAPT) H1 haplotype single nucleotide polymorphisms (SNPs) as leading common risk variants for Parkinson’s disease, progressive supranuclear palsy and corticobasal degeneration. The MAPT risk variants… read more here.
Keywords: haplotype specific; mapt exon; expression; mapt ... See more keywords