Some initial comparisons of HGMD & OMIM, nice to incl. ClinVar in the future
Archive for the 'SciLit' Category
Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations
April 26, 2015The 8q24 cancer risk variant rs6983267 shows long-range interaction with : MYC: in colorectal cancer : Abstract : Nature Genetics
April 26, 2015Global burden of cancers attributable to infections in 2008: a review and synthetic analysis – The Lancet Oncology
April 26, 2015http://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(12)70137-7/abstract
Intratumor heterogeneity in localized lung adenocarcinomas delineated by multiregion sequencing
April 26, 2015A ceRNA hypothesis: the Rosetta Stone of a hidden RNA language? – PubMed – NCBI
April 26, 2015Applies to all rns
http://www.ncbi.nlm.nih.gov/pubmed/21802130
A ceRNA hypothesis: the Rosetta Stone of a hidden RNA language? – PubMed – NCBI
PLOS ONE: Circular RNAs Are the Predominant Transcript Isoform from Hundreds of Human Genes in Diverse Cell Types
April 26, 2015PLOS ONE: Circular RNAs Are the Predominant Transcript Isoform from Hundreds of Human Genes in Diverse Cell Types
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0030733
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine : Nature Medicine : Nature Publishing Group
April 26, 2015Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine : Nature Medicine : Nature Publishing Group
http://www.nature.com/nm/journal/v20/n6/abs/nm.3559.html
Describes PHIAL
The External RNA Controls Consortium: a progress report – Nature Methods
April 26, 2015Another ERCC consortia, predates exRNA
http://www.nature.com/nmeth/journal/v2/n10/full/nmeth1005-731.html
“The Race” to Clone BRCA1
April 25, 2015The Race to Clone #BRCA1 http://www.sciencemag.org/content/343/6178/1462.abstract
Lessons on #LOF mutations, synthetic lethality, silly gene names & the 2-hit hypothesis
synthetic lethality (PARP inhibitors), gene names (RING fingers)
linkstream2 microblog 