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In Print: Last Week's Clinical Sequencing Papers of Note: Mar 7, 2012


The transcriptome analysis of Strongyloides stercoralis L3i larvae reveals targets for intervention in a neglected disease.
Marcilla A, Garg G, Bernal D, Ranganathan S, et al.
PLoS Negl Trop Dis. 2012 Feb;6(2):e1513.

Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing.
Dan S, Chen F, Choy KW, Jiang F, et al.
PLoS One. 2012;7(2):e27835.

The use of next generation sequencing technology to study the effect of radiation therapy on mitochondrial DNA mutation.
Guo Y, Cai Q, Samuels DC, Ye F, et al.
Mutat Res. 2012 Feb 24. [Epub ahead of print]

Analysis of serum genome-wide microRNAs for breast cancer detection.
Wu Q, Wang C, Lu Z, Guo L, Ge Q.
Clin Chim Acta. 2012 Feb 23. [Epub ahead of print]

Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability.
Iqbal Z, Neveling K, Razzaq A, Shahzad M, et al.
Arch Med Res. 2012 Feb 29. [Epub ahead of print]

Transcriptional profiling by sequencing of oropharyngeal cancer.
Laborde RR, Wang VW, Smith TM, Olson NE, et al.
Mayo Clin Proc. 2012 Mar;87(3):226-32.

Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor.
Xu X, Hou Y, Yin X, Bao L, em>et al.
Cell. 2012 Mar 2;148(5):886-95.

Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferative neoplasm.
Hou Y, Song L, Zhu P, Zhang B, et al.
Cell. 2012 Mar 2;148(5):873-85.

From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian peninsula.
Alsaadi MM, Gaunt TR, Boustred CR, Guthrie PA, et al.
Ann Hum Genet. 2012 Mar 2. [Epub ahead of print]

Combined chromatin and expression analysis reveals specific regulatory mechanisms within cytokine genes in the macrophage early immune response.
Jesus Iglesias M, Reilly SJ, Emanuelsson O, Sennblad B, et al.
PLoS One. 2012;7(2):e32306.

High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Refsgaard L, Holst AG, Sadjadieh G, Haunsø S, et al.
Eur J Hum Genet. 2012 Feb 29. [Epub ahead of print]

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.
Leidenroth A, Sorte HS, Gilfillan G, Ehrlich M, et al.
Eur J Hum Genet. 2012 Feb 29. [Epub ahead of print]

Rapid identification of nonhuman sequences in high throughput sequencing data sets.
Bhaduri A, Qu K, Lee CS, Ungewickell A, Khavari PA.
Bioinformatics. 2012 Feb 28. [Epub ahead of print]

Escherichia coli O104:H4 infections and international travel.
Alexander DC, Hao W, Gilmour MW, Zittermann S, et al.
Emerg Infect Dis. 2012 Mar;18(3):473-6.

RNA-seq quantification of the human small airway epithelium transcriptome.
Hackett NR, Butler MW, Shaykhiev R, Salit J, et al.
BMC Genomics. 2012 Feb 29;13(1):82.

Highly diverse TCRα chain repertoire of pre-immune CD8(+) T cells reveals new insights in gene recombination.
Genolet R, Stevenson BJ, Farinelli L, Osterås M, Luescher IF.
EMBO J. 2012 Feb 28. [Epub ahead of print]

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, et al.
J Med Genet. 2012 Mar;49(3):179-83.

Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes.
Molenaar JJ, Koster J, Zwijnenburg DA, van Sluis P, et al.
Nature. 2012 Feb 22. [Epub ahead of print]

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, et al.
Nat Genet. 2012 Feb 26. [Epub ahead of print]

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, et al.
Nat Genet. 2012 Feb 26. [Epub ahead of print]

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
Veeramah KR, O'Brien JE, Meisler MH, Cheng X, et al.
Am J Hum Genet. 2012 Feb 21. [Epub ahead of print]

Challenges in whole exome sequencing: an example from hereditary deafness.
Sirmaci A, Edwards YJ, Akay H, Tekin M.
PLoS One. 2012;7(2):e32000.

A whole-genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor-negative and -positive breast cancers.
Natrajan R, Mackay A, Lambros MB, Weigelt B, et al.
J Pathol. 2012 Feb 23. [Epub ahead of print]

Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.
Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, et al.
Obstet Gynecol. 2012 Feb 22. [Epub ahead of print]

The Scan

Pig Organ Transplants Considered

The Wall Street Journal reports that the US Food and Drug Administration may soon allow clinical trials that involve transplanting pig organs into humans.

'Poo-Bank' Proposal

Harvard Medical School researchers suggest people should bank stool samples when they are young to transplant when they later develop age-related diseases.

Spurred to Develop Again

New Scientist reports that researchers may have uncovered why about 60 percent of in vitro fertilization embryos stop developing.

Science Papers Examine Breast Milk Cell Populations, Cerebral Cortex Cellular Diversity, Micronesia Population History

In Science this week: unique cell populations found within breast milk, 100 transcriptionally distinct cell populations uncovered in the cerebral cortex, and more.