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Last Week's Clinical Sequencing Papers of Note: Sep 21, 2011


Massively parallel sequence analysis for revealing causes of neuromuscular disorders.
Ishiura H, Tsuji S.
Rinsho Shinkeigaku. 2010 Nov;50(11):957-8.

Exploring the responsible gene for a familial ALS by next-generation sequencer.
Kaname T, Tsujino A, Yoshiura K.
Rinsho Shinkeigaku. 2010 Nov;50(11):956.

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
Marti-Masso JF, Ruiz-Martínez J, Makarov V, et al.
Hum Genet. 2011 Sep 13. [Epub ahead of print]

Reduced expression of brain-enriched microRNAs in glioblastomas permits targeted regulation of a cell death gene.
Skalsky RL, Cullen BR.
PLoS One. 2011;6(9):e24248.

Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient.
Lam K, Guo H, Wilson GA, Kohl S, Wong F.
Arch Ophthalmol. 2011 Sep;129(9):1212-7.

Analysis of the ABCA4 gene by next-generation sequencing.
Zernant J, Schubert C, Im KM, et al.
Invest Ophthalmol Vis Sci. 2011 Sep 12. [Epub ahead of print]

Deep sequencing of virus-infected cells reveals HIV-encoded small RNAs.
Schopman NC, Willemsen M, Liu YP, et al.
Nucleic Acids Res. 2011 Sep 12. [Epub ahead of print]

A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing.
Wei X, Jin F, Ye Y, Xu C, Qu N, Ju X, Yi X.
Clin Chim Acta. 2011 Sep 3. [Epub ahead of print]

Whole genome analyses of African G2, G8, G9, and G12 rotavirus strains using sequence-independent amplification and 454 pyrosequencing.
Jere KC, Mlera L, O'Neill HG, Potgieter AC, Page NA, Seheri ML, van Dijk AA.
J Med Virol. 2011 Nov;83(11):2018-42.

RNA-seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders.
Lin M, Pedrosa E, Shah A, Hrabovsky A, Maqbool S, Zheng D, Lachman HM.
PLoS One. 2011;6(9):e23356.

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
Brownstein Z, Friedman LM, Shahin H, et al.
Genome Biol. 2011 Sep 14;12(9):R89.

The Scan

Fertility Fraud Found

Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today.

Ties Between Vigorous Exercise, ALS in Genetically At-Risk People

Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports.

Test Warning

The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK.

Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine

In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.