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Last Week's Clinical Sequencing Papers of Note: Aug 31, 2011

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Oligodendroglioma exome sequencing.
Vogan K.
Nat Genet. 2011 Aug 29;43(9):824.


Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, et al.
Med Genet. 2011 Sep;48(9):597-601.


A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.
Majewski J, Wang Z, Lopez I, Al Humaid S, et al.
J Med Genet. 2011 Sep;48(9):593-6.


Population genetics of Vibrio cholerae from Nepal in 2010: Evidence on the origin of the Haitian outbreak.
Hendriksen RS, Price LB, Schupp JM, Gillece JD, et al.
MBio. 2011 Sep 1;2(4). pii: e00157-11.

The Scan

Germline-Targeting HIV Vaccine Shows Promise in Phase I Trial

A National Institutes of Health-led team reports in Science that a broadly neutralizing antibody HIV vaccine induced bnAb precursors in 97 percent of those given the vaccine.

Study Uncovers Genetic Mutation in Childhood Glaucoma

A study in the Journal of Clinical Investigation ties a heterozygous missense variant in thrombospondin 1 to childhood glaucoma.

Gene Co-Expression Database for Humans, Model Organisms Gets Update

GeneFriends has been updated to include gene and transcript co-expression networks based on RNA-seq data from 46,475 human and 34,322 mouse samples, a new paper in Nucleic Acids Research says.

New Study Investigates Genomics of Fanconi Anemia Repair Pathway in Cancer

A Rockefeller University team reports in Nature that FA repair deficiency leads to structural variants that can contribute to genomic instability.