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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

NFTs for Genome Sharing

Nature News writes that non-fungible tokens could be a way for people to profit from sharing genomic data.

Wastewater Warning System

Time magazine writes that cities and college campuses are monitoring sewage for SARS-CoV-2, an approach officials hope lasts beyond COVID-19.

Networks to Boost Surveillance

Scientific American writes that new organizations and networks aim to improve the ability of developing countries to conduct SARS-CoV-2 genomic surveillance.

Genome Biology Papers on Gastric Cancer Epimutations, BUTTERFLY, GUNC Tool

In Genome Biology this week: recurrent epigenetic mutations in gastric cancer, correction tool for unique molecular identifier-based assays, and more.