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In Print: Last Week's Clinical Sequencing Papers of Note: Apr 25, 2012

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Whole transcriptome characterization of aberrant splicing events induced by lentiviral vector integrations.
Cesana D, Sgualdino J, Rudilosso L, Merella S, et al.
J Clin Invest. 2012 Apr 23. pii: 62189.


Comprehensive assessment of potential multiple myeloma immunoglobulin heavy chain V-D-J intraclonal variation using massively parallel pyrosequencing.
Tschumper RC, Asmann YW, Hossain A, Huddleston PM, et al.
Oncotarget. 2012 Apr 20. [Epub ahead of print]


Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
Edvardson S, Cinnamon Y, Jalas C, Shaag A, et al.
Ann Neurol. 2012 Apr;71(4):569-72.


PSORS2 is due to mutations in CARD14.
Jordan CT, Cao L, Roberson ED, Pierson KC, et al.
Am J Hum Genet. 2012 Apr 17. [Epub ahead of print]


A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
Hussain MS, Baig SM, Neumann S, Nürnberg G, et al.
Am J Hum Genet. 2012 Apr 17. [Epub ahead of print]


Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, et al.
Cell. 2012 Apr 17. [Epub ahead of print]


Using high throughput sequencing to explore the biodiversity in oral bacterial communities.
Diaz PI, Dupuy AK, Abusleme L, Reese B, et al.
Mol Oral Microbiol. 2012 Jun;27(3):182-201.


Deep RNA sequencing reveals novel cardiac transcriptomic signatures for physiological and pathological hypertrophy.
Song HK, Hong SE, Kim T, Kim do H.
PLoS One. 2012;7(4):e35552.


Dynamics of hepatitis B virus quasispecies in association with nucleos(t)ide analogue treatment determined by ultra-deep sequencing.
Nishijima N, Marusawa H, Ueda Y, Takahashi K, et al.
PLoS One. 2012;7(4):e35052.


Analysis of a Streptococcus pyogenes puerperal sepsis cluster using whole-genome sequencing.
Ben Zakour NL, Venturini C, Beatson SA, Walker MJ.
J Clin Microbiol. 2012 Apr 18. [Epub ahead of print]


NGS catalog: A database of next generation sequencing studies in humans.
Xia J, Wang Q, Jia P, Wang B, et al.
Hum Mutat. 2012 Apr 19. [Epub ahead of print]


Tandem duplication of chromosomal segments is common in ovarian and breast cancer genomes.
McBride DJ, Etemadmoghadam D; Australian Ovarian Cancer Study Group, Cooke SL, et al.
J Pathol. 2012 Apr 18. [Epub ahead of print]


Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis.
Hao H, Kim DS, Klocke B, Johnson KR, et al.
PLoS Genet. 2012 Apr;8(4):e1002649.


Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
Chahrour MH, Yu TW, Lim ET, Ataman B, et al.
PLoS Genet. 2012 Apr;8(4):e1002635.


Complete sequencing of an IncH plasmid carrying the blaNDM-1, blaCTX-M-15 and qnrB1 genes.
Villa L, Poirel L, Nordmann P, Carta C, Carattoli A.
J Antimicrob Chemother. 2012 Apr 17. [Epub ahead of print]


Sampling strategies for rare variant tests in case-control studies.
Zöllner S.
Eur J Hum Genet. 2012 Apr 18. [Epub ahead of print]


Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet-Biedl syndrome with situs inversus and insertional polydactyly.
Marion V, Stutzmann F, Gérard M, De Melo C, et al.
J Med Genet. 2012 Apr 17. [Epub ahead of print]


Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing.
Liu P, Morrison C, Wang L, Xiong D, et al.
Carcinogenesis. 2012 Apr 17. [Epub ahead of print]


Unbiased approach to profile the variety of small non-coding RNA of human blood plasma with massively parallel sequencing technology.
Semenov DV, Baryakin DN, Brenner EV, Kurilshikov AM, et al.
Expert Opin Biol Ther. 2012 Apr 18. [Epub ahead of print]


A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Horvath R, Holinski-Feder E, Neeve VC, Pyle A, et al.
Mov Disord. 2012 Apr 16. [Epub ahead of print]


On optimal gene-based analysis of genome scans.
Bacanu SA.
Genet Epidemiol. 2012 Apr 16. [Epub ahead of print]


Familial occurrence of cervical artery dissection — coincidence or sign of familial predisposition?
Grond-Ginsbach C, de Freitas GR, Campos CR, Thie A, et al.
Cerebrovasc Dis. 2012 Apr 11;33(5):466-470.

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