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In Print: Last Week's Clinical Sequencing Papers of Note: Mar 21, 2012


Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas.
McGuire MM, Yatsenko A, Hoffner L, Jones M, et al.
PLoS One. 2012;7(3):e33251.

A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer.
Ng KP, Hillmer AM, Chuah CT, Juan WC, et al.
Nat Med. 2012 Mar 18. [Epub ahead of print]

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
Santen GW, Aten E, Sun Y, Almomani R, et al.
Nat Genet. 2012 Mar 18. [Epub ahead of print]

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, et al.
Nat Genet. 2012 Mar 18. [Epub ahead of print]

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.
Hernan I, Borràs E, de Sousa Dias M, Gamundi MJ, et al.
J Mol Diagn. 2012 Mar 15. [Epub ahead of print]

Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
Valencia CA, Rhodenizer D, Bhide S, Chin E, et al.
J Mol Diagn. 2012 Mar 15. [Epub ahead of print]

Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing.
Xie S, Lan Z, Qu N, Wei X, et al.
Gene. 2012 Mar 9. [Epub ahead of print]

Targeted next-generation sequencing of clinically significant gene mutations and translocations in leukemia.
Duncavage EJ, Abel HJ, Szankasi P, Kelley TW, Pfeifer JD.
Mod Pathol. 2012 Mar 16. [Epub ahead of print]

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, et al.
Am J Hum Genet. 2012 Mar 14. [Epub ahead of print]

Automated sequence analysis and editing software for HIV drug resistance testing.
Struck D, Wallis CL, Denisov G, Lambert C, et al.
J Clin Virol. 2012 Mar 15. [Epub ahead of print]

Mutations in ROGDI cause Kohlschütter-Tönz syndrome.
Schossig A, Wolf NI, Fischer C, Fischer M, et al.
Am J Hum Genet. 2012 Mar 14. [Epub ahead of print]

Broadening research consent in the era of genome-informed medicine.
Kronenthal C, Delaney SK, Christman MF.
Genet Med. 2012 Mar 15. [Epub ahead of print]

Exploring concordance and discordance for return of incidental findings from clinical sequencing.
Green RC, Berg JS, Berry GT, Biesecker LG, et al.
Genet Med. 2012 Mar 15. [Epub ahead of print]

Fatal cases of influenza A(H3N2) in children: insights from whole genome sequence analysis.
Galiano M, Johnson BF, Myers R, Ellis J, et al.
PLoS One. 2012;7(3):e33166.

Integrated epigenome profiling of repressive histone modifications, DNA methylation and gene expression in normal and malignant urothelial cells.
Dudziec E, Gogol-Döring A, Cookson V, Chen W, Catto J.
PLoS One. 2012;7(3):e32750.

Deep sequencing for the detection of virus-like sequences in the brains of patients with multiple sclerosis: detection of GBV-C in human brain.
Kriesel JD, Hobbs MR, Jones BB, Milash B, et al.
PLoS One. 2012;7(3):e31886.

The human pancreatic islet transcriptome: expression of candidate genes for type 1 diabetes and the impact of pro-inflammatory cytokines.
Eizirik DL, Sammeth M, Bouckenooghe T, Bottu G, et al.
PLoS Genet. 2012 Mar;8(3):e1002552.

Whole genome deep sequencing of HIV-1 reveals the impact of early minor variants upon immune recognition during acute infection.
Henn MR, Boutwell CL, Charlebois P, Lennon NJ, et al.
PLoS Pathog. 2012 Mar;8(3):e1002529.

Clonal architecture of secondary acute myeloid leukemia.
Walter MJ, Shen D, Ding L, Shao J, et al.
N Engl J Med. 2012 Mar 14. [Epub ahead of print]

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.
Motazacker MM, Pirruccello J, Huijgen R, Do R, et al.
Eur Heart J. 2012 Mar 8. [Epub ahead of print]

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
Kondo E, Nishimura T, Kosho T, Inaba Y, et al.
Am J Med Genet A. 2012 Mar 9. [Epub ahead of print]

Whole-genome analysis of diverse Chlamydia trachomatis strains identifies phylogenetic relationships masked by current clinical typing.
Harris SR, Clarke IN, Seth-Smith HM, Solomon AW, et al.
Nat Genet. 2012 Mar 11. [Epub ahead of print]

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.
Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, et al.
Nat Genet. 2012 Mar 11. [Epub ahead of print]

Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.
Lin Z, Chen Q, Lee M, Cao X, et al.
Am J Hum Genet. 3012 Mar 9;90(3):558-564.

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
Spiegel R, Pines O, Ta-Shma A, Burak E, et al.
Am J Hum Genet. 3012 Mar 9;90(3):518-523.

Whole genome shotgun sequencing of one Colombian clinical isolate of Mycobacterium tuberculosis reveals DosR regulon gene deletions.
Isaza JP, Duque C, Gomez V, Robledo J, et al.
FEMS Microbiol Lett. 2012 Mar 8. [Epub ahead of print]

Whole genome sequencing and the physician.
Thorogood A, Knoppers BM, Dondorp WJ, de Wert GM.
Clin Genet. 2012 Mar 7. [Epub ahead of print]

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.
Rubio JP, Topp S, Warren L, St Jean PL, et al.
Hum Mutat. 2012 Mar 13. [Epub ahead of print]

Identification of a truncation mutation of the acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.
Aldhamesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS.
Hum Mutat. 2012 Mar 13. [Epub ahead of print]

The Scan

Ancient Greek Army Ancestry Highlights Mercenary Role in Historical Migrations

By profiling genomic patterns in 5th century samples from in and around Himera, researchers saw diverse ancestry in Greek army representatives in the region, as they report in PNAS.

Estonian Biobank Team Digs into Results Return Strategies, Experiences

Researchers in the European Journal of Human Genetics outline a procedure developed for individual return of results for the population biobank, along with participant experiences conveyed in survey data.

Rare Recessive Disease Insights Found in Individual Genomes

Researchers predict in Genome Medicine cross-population deletions and autosomal recessive disease impacts by analyzing recurrent nonallelic homologous recombination-related deletions.

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.