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In Print: Last Week's Clinical Sequencing Papers of Note: Jan 18, 2012


A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Caputo V, Cianetti L, Niceta M, Carta C, et al.
Hum Genet. 2012 Jan 13;90(1):161-9.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Huppke P, Brendel C, Kalscheuer V, Korenke GC, et al.
Am J Hum Genet. 2012 Jan 13;90(1):61-8.

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases.
Li MX, Gui HS, Kwan JS, Bao SY, Sham PC.
Nucleic Acids Res. 2012 Jan 12. [Epub ahead of print]

Next-generation sequencing for simultaneous determination of HPV load, subtype, and associated genomic copy number changes in tumors.
Conway C, Chalkley R, High A, Maclennan K, et al.
J Mol Diagn. 2012 Jan 9. [Epub ahead of print]

An integrative variant analysis suite for whole exome next-generation sequencing data.
Challis D, Yu J, Evani US, Jackson AR, et al.
BMC Bioinformatics. 2012 Jan 12;13(1):8. [Epub ahead of print]

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.
Bolze A, Abhyankar A, Grant AV, Patel B, et al.
PLoS One. 2012;7(1):e29708. Epub 2012 Jan 4.

Whole genome characterization of the mechanisms of daptomycin resistance in clinical and laboratory derived isolates of Staphylococcus aureus.
Peleg AY, Miyakis S, Ward DV, Earl AM, et al.
PLoS One. 2012;7(1):e28316. Epub 2012 Jan 6.

Study of genotypic and phenotypic HIV-1 dynamics of integrase mutations during raltegravir treatment: a refined analysis by ultra-deep 454 pyrosequencing.
Armenia D, Vandenbroucke I, Fabeni L, Van Marck H, et al.
J Infect Dis. 2012 Jan 11. [Epub ahead of print]

Exploiting the mutanome for tumor vaccination.
Castle JC, Kreiter S, Diekmann J, Lower M, et al.
Cancer Res. 2012 Jan 11. [Epub ahead of print]

The genetic basis of early T -cell precursor acute lymphoblastic leukaemia.
Zhang J, Ding L, Holmfeldt L, Wu G, et al.
Nature. 2012 Jan 11;481(7380):157-63.

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing.
Ding L, Ley TJ, Larson DE, Miller CA, et al.
Nature. 2012 Jan 11. [Epub ahead of print]

A novel retinoblastoma therapy from genomic and epigenetic analyses.
Zhang J, Benavente CA, McEvoy J, Flores-Otero J, et al.
Nature. 2012 Jan 11. [Epub ahead of print]
(see our coverage of this paper in this issue)

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
Ombrello MJ, Remmers EF, Sun G, Freeman AF, et al.
N Engl J Med. 2012 Jan 11. [Epub ahead of print]

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, et al.
PLoS One. 2012;7(1):e29729.

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
Montenegro G, Rebelo AP, Connell J, Allison R, et al.
J Clin Invest. 2012 Jan 9. [Epub ahead of print]

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation.
Shamseldin HE, Elfaki M, Alkuraya FS.
J Med Genet. 2012 Jan 9. [Epub ahead of print]

The Scan

Call to Look Again

More than a dozen researchers penned a letter in Science saying a previous investigation into the origin of SARS-CoV-2 did not give theories equal consideration.

Not Always Trusted

In a new poll, slightly more than half of US adults have a great deal or quite a lot of trust in the Centers for Disease Control and Prevention, the Hill reports.

Identified Decades Later

A genetic genealogy approach has identified "Christy Crystal Creek," the New York Times reports.

Science Papers Report on Splicing Enhancer, Point of Care Test for Sexual Transmitted Disease

In Science this week: a novel RNA structural element that acts as a splicing enhancer, and more.