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Last Week's Clinical Sequencing Papers of Note: Sep 28, 2011


Next-generation mapping of complex traits with phenotype-based selection and introgression.
Earley EJ, Jones CD.
Genetics. 2011 Sep 21. [Epub ahead of print]

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, et al.
Eur J Hum Genet. 2011 Oct;19(10):1109.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, et al.
Nature. 2011 Sep 21. [Epub ahead of print]
(See our coverage of this paper in this week's issue here)

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Tyynismaa H, Sun R, Ahola-Erkkilä S, Almusa H, et al.
Hum Mol Genet. 2011 Sep 21. [Epub ahead of print]

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.
Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM.
Genome Biol. 2011 Sep 21;12(9):R91.

Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice.
Hilton JM, Lewis MA, Grati M, Ingham N, et al.
Genome Biol. 2011 Sep 21;12(9):R90.

microRNA expression profiling in fetal single ventricle malformation identified by deep sequencing.
Yu ZB, Han SP, Bai YF, Zhu C, et al.
Int J Mol Med. 2011 Sep 20. [Epub ahead of print]

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.
Dewey FE, Chen R, Cordero SP, Ormond KE, et al.
PLoS Genet. 2011 Sep;7(9):e1002280. (See our coverage of this paper in last week's issue here)

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Next-generation sequencing reveals HIV-1-mediated suppression of T cell activation and RNA processing and regulation of noncoding RNA expression in a CD4+ T cell line.
Chang ST, Sova P, Peng X, Weiss J, et al.
MBio. 2011 Sep 20;2(5). pii: e00134-11.

High TCR diversity ensures optimal function and homeostasis of FoxP3(+) regulatory T cells.
Föhse L, Suffner J, Suhre K, Wahl B, et al.
Eur J Immunol. 2011 Sep 19. [Epub ahead of print]

Profile of microRNAs following rat sciatic nerve injury by deep sequencing: implication for mechanisms of nerve regeneration.
Yu B, Zhou S, Wang Y, Ding G, et al.
PLoS One. 2011;6(9):e24612.

International Cancer Genome Consortium Data Portal — a one-stop shop for cancer genomics data.
Zhang J, Baran J, Cros A, Guberman JM, et al.
Database. (Oxford). 2011 Sep 19;2011:bar026. Print 2011.

High-throughput resequencing of target-captured cDNAs in cancer cells.
Ueno T, Yamashita Y, Soda M, Fukumura K, et al.
Cancer Sci. 2011 Sep 20. [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.