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


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.

The Scan

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.

Mitochondrial Replacement Therapy Embryos Appear Largely Normal in Single-Cell 'Omics Analyses

Embryos produced with spindle transfer-based mitochondrial replacement had delayed demethylation, but typical aneuploidy and transcriptome features in a PLOS Biology study.

Cancer Patients Report Quality of Life Benefits for Immune Checkpoint Inhibitors

Immune checkpoint inhibitor immunotherapy was linked in JAMA Network Open to enhanced quality of life compared to other treatment types in cancer patients.

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.