Posts Tagged ‘SVs’

Jclub paper

Tuesday, January 17th, 2017

The impact of #SVs on…gene expression 24k in 147 people in GTEx pilot act as causal variants in 3-7% of ~25k eQTLs

The impact of structural variation on human gene expression

Colby Chiang, Alexandra J Scott, Joe R Davis, Emily
K Tsang, Xin Li, Yungil Kim, Farhan N Damani, Liron Ganel, GTEx Consortium, Stephen B Montgomery, Alexis Battle, Donald F Conrad, Ira M Hall

BMC Genomics | Full text | PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

Thursday, June 25th, 2015

PacBio-LITS: a…targeted sequencing method for characterization of…disease-associated SVs Capture reagent+@PacBio