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In Print: Last Week's Clinical Sequencing Papers of Note: Feb 15, 2012


Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.
Makishima H, Visconte V, Sakaguchi H, et al.
Blood. 2012 Feb 9. [Epub ahead of print]

The empirical power of rare variant association methods: results from Sanger sequencing in 1,998 individuals.
Ladouceur M, Dastani Z, Aulchenko YS, Greenwood CM, Richards JB.
PLoS Genet. 2012 Feb;8(2):e1002496.

Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting.
Matsushita H, Vesely MD, Koboldt DC, et al.
Nature. 2012 Feb 8. [Epub ahead of print]

High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods.
Corrales I, Catarino S, Ayats J, Arteta D, Altisent C, Parra R, Vidal F.
Haematologica. 2012 Feb 7. [Epub ahead of print]

Breast cancer signatures for invasiveness and prognosis defined by deep sequencing of microRNA.
Volinia S, Galasso M, Sana ME, et al.
Proc Natl Acad Sci U S A. 2012 Feb 6. [Epub ahead of print]

Genomic epidemiology of the Escherichia coli O104:H4 outbreaks in Europe, 2011.
Grad YH, Lipsitch M, Feldgarden M, et al.
Proc Natl Acad Sci U S A. 2012 Feb 6. [Epub ahead of print]

Deep sequencing analysis of small non-coding RNAs reveals the diversity of microRNAs and piRNAs in the human epididymis.
L i Y, Wang HY, Wan FC, Liu FJ, Liu J, Zhang N, Jin SH, Li JY.
Gene. 2012 Jan 31. [Epub ahead of print]

Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence?
Sullivan W, Evans DG, Newman WG, Ramsden SC, Scheffer H, Payne K.
Genet Test Mol Biomarkers. 2012 Feb 7. [Epub ahead of print]

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
Cruchaga C, Chakraverty S, Mayo K, et al.
PLoS One. 2012;7(2):e31039.

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
Dias C, Sincan M, Cherukuri PF, et al.
Hum Mutat. 2012 Feb 6. [Epub ahead of print]

Temporal shifts in the skin microbiome associated with atopic dermatitis disease flares and treatment.
Kong HH, Oh J, Deming C, et al.
Genome Res. 2012 Feb 6. [Epub ahead of print]

Using transcriptome sequencing to identify mechanisms of drug action and resistance.
Wacker SA, Houghtaling BR, Elemento O, Kapoor TM.
Nat Chem Biol. 2012 Feb 12. [Epub ahead of print]

Accurate and sensitive diagnosis of geminiviruses through enrichment, high-throughput sequencing and automated sequence identification.
Hagen C, Frizzi A, Gabriels S, Huang M, Salati R, Gabor B, Huang S.
Arch Virol. 2012 Feb 11. [Epub ahead of print]

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Audo I, Bujakowska K, Orhan E, et al.
Am J Hum Genet. 2012 Feb 10;90(2):321-30.

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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.