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In Print: Last Week's Clinical Sequencing Papers of Note: May 9, 2012


Transcriptome sequencing revealed significant alteration of cortical promoter usage and splicing in schizophrenia.
Wu JQ, Wang X, Beveridge NJ, Tooney PA, et al.
PLoS One. 2012;7(4):e36351.

The airway microbiota in cystic fibrosis: a complex fungal and bacterial community — implications for therapeutic management.
Delhaes L, Monchy S, Fréalle E, Hubans C, et al.
PLoS One. 2012;7(4):e36313.

Genome-wide profiling identified a set of miRNAs that are differentially expressed in glioblastoma stem cells and normal neural stem cells.
Lang MF, Yang S, Zhao C, Sun G, et al.
PLoS One. 2012;7(4):e36248.

Whole genome sequencing to investigate the emergence of clonal complex 23 Neisseria meningitides serogroup Y disease in the United States.
Krauland MG, Dunning Hotopp JC, Riley DR, Daugherty SC, et al.
PLoS One. 2012;7(4):e35699.

High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
Kelleher Iii RJ, Geigenmüller U, Hovhannisyan H, Trautman E, et al.
PLoS One. 2012;7(4):e35003.

Next generation sequencing to detect variation in the Plasmodium falciparum circumsporozoite protein.
Gandhi K, Thera MA, Coulibaly D, Traoré K, et al.
Am J Trop Med Hyg. 2012 May;86(5):775-81.

A unified framework for detecting rare variant quantitative trait associations in pedigree and unrelated individuals via sequence data.
Liu DJ, Leal SM.
Hum Hered. 2012 Apr 28;73(2):105-122.

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism.
Fuchs SA, Harakalova M, van Haaften G, van Hasselt PM, et al.
Metallomics. 2012 May 4. [Epub ahead of print]

Next-generation prostate cancer biobanking: toward a processing protocol amenable for the International Cancer Genome Consortium.
Esgueva R, Park K, Kim R, Kitabayashi N, et al.
Diagn Mol Pathol. 2012 May 1. [Epub ahead of print]

Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.
Li M, Pang SY, Song Y, Kung MH, et al.
Clin Genet. 2012 May 3. [Epub ahead of print]

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.
Marangi G, Leuzzi V, Manti F, Lattante S, et al.
Eur J Hum Genet. 2012 May 2. [Epub ahead of print]

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, et al.
Clin Genet. 2012 Mar 30. [Epub ahead of print]

From sequence to molecular pathology, and a mechanism driving the neuroendocrine phenotype in prostate cancer.
Lapuk AV, Wu C, Wyatt AW, McPherson A, et al.
J Pathol. 2012 May 3. [Epub ahead of print]

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.
Diggle CP, Parry DA, Logan CV, Laissue P, et al.
Hum Mutat. 2012 May 2. [Epub ahead of print]

Diversity of and selection on Plasmodium falciparum csp T cell epitopes determined by massively parallel pyrosequencing in Lilongwe, Malawi.
Bailey JA, Mvalo T, Aragam N, Weiser M, et al.
J Infect Dis. 2012 May 2. [Epub ahead of print]

Reconstructing cancer genomes from paired-end sequencing data.
Oesper L, Ritz A, Aerni SJ, Drebin R, Raphael BJ.
BMC Bioinformatics. 2012 Apr 19;13 Suppl 6:S10.

The Scan

Mosquitos Genetically Modified to Prevent Malaria Spread

A gene drive approach could be used to render mosquitos unable to spread malaria, researchers report in Science Advances.

Gut Microbiomes Allow Bears to Grow to Similar Sizes Despite Differing Diets

Researchers in Scientific Reports find that the makeup of brown bears' gut microbiomes allows them to reach similar sizes even when feasting on different foods.

Finding Safe Harbor in the Human Genome

In Genome Biology, researchers present a new approach to identify genomic safe harbors where transgenes can be expressed without affecting host cell function.

New Data Point to Nuanced Relationship Between Major Depression, Bipolar Disorder

Lund University researchers in JAMA Psychiatry uncover overlapping genetic liabilities for major depression and bipolar disorder.