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In Print: Last Week's Clinical Sequencing Papers of Note: Dec 21, 2011


Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.
Walne A, Dokal A, Plagnol V, Beswick R, et al.
Haematologica. 2011 Dec 16. [Epub ahead of print]

Whole-genome sequencing of rifampicin-resistant Mycobacterium tuberculosis strains identifies compensatory mutations in RNA polymerase genes.
Comas I, Borrell S, Roetzer A, Rose G, et al.
Nat Genet. 2011 Dec 18. [Epub ahead of print]

Mutations in EZH2 cause Weaver syndrome.
Gibson WT, Hood RL, Zhan SH, Bulman DE, et al.
Am J Hum Genet. 2011 Dec 14. [Epub ahead of print]

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, et al.
Am J Hum Genet. 2011 Dec 14. [Epub ahead of print]

Interpretome: a freely available, modular, and secure personal genome interpretation engine.
Karczewski KJ, Tirrell RP, Cordero P, Tatonetti NP, et al.
Pac Symp Biocomput. 2012:339-50.

Discovery of mutated subnetworks associated with clinical data in cancer.
Vandin F, Clay P, Upfal E, Raphael BJ.
Pac Symp Biocomput. 2012:55-66.

Primary colorectal cancers and their subsequent hepatic metastases are genetically different: implications for selection of patients for targeted treatment.
Vermaat JS, Nijman IJ, Koudijs MJ, Gerritse FL, et al.
Clin Cancer Res. 2011 Dec 15. [Epub ahead of print]

Mast-cell leukemia exome sequencing reveals a mutation in the IgE mast-cell receptor β chain and KIT V654A.
Spector MS, Iossifov I, Kritharis A, He C, et al.
Leukemia. 2011 Dec 16. [Epub ahead of print]

Digital gene expression profiling of primary acute lymphoblastic leukemia cells.
Nordlund J, Kiialainen A, Karlberg O, Berglund EC, et al.
Leukemia. 2011 Dec 16. [Epub ahead of print]

Cell population genetics and deep sequencing: a novel approach for drivers discovery in hepatocellular carcinoma.
Alsinet C, Villanueva A, Llovet JM.
J Hepatol. 2011 Dec 12. [Epub ahead of print]

Beyond bacteria: a study of the enteric microbial consortium in extremely low birth weight infants.
Latuga MS, Ellis JC, Cotton CM, Goldberg RN, et al.
PLoS One. 2011;6(12):e27858.

A genome-wide analysis of open chromatin in human tracheal epithelial cells reveals novel candidate regulatory elements for lung function.
Bischof JM, Ott CJ, Leir SH, Gosalia N, et al.
Thorax. 2011 Dec 14. [Epub ahead of print]

A novel approach to the management and use of personal genome variants in clinical practice.
Franciosi S.
Clin Genet. 2011 Dec 13. [Epub ahead of print]

2011 German Escherichia coli O104:H4 outbreak: whole-genome phylogeny without alignment.
Cheung MK, Li L, Nong W, Kwan HS.
BMC Res Notes. 2011 Dec 13;4(1):533.

Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.
Graubert TA, Shen D, Ding L, Okeyo-Owuor T, et al.
Nat Genet. 2011 Dec 11. [Epub ahead of print]

The Scan

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.

Team Presents Cattle Genotype-Tissue Expression Atlas

Using RNA sequences representing thousands of cattle samples, researchers looked at relationships between cattle genotype and tissue expression in Nature Genetics.

Researchers Map Recombination in Khoe-San Population

With whole-genome sequences for dozens of individuals from the Nama population, researchers saw in Genome Biology fine-scale recombination patterns that clustered outside of other populations.

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.