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In Print: Last Week's Clinical Sequencing Papers of Note: Feb 20, 2013


Exome sequencing and genome-wide linkage analysis in 17 families illustrates the complex contribution of TTN truncating variants to dilated cardiomyopathy.
Norton N, Li D, Rampersaud E, Morales A, et al.
Circ Cardiovasc Genet. 2013 Feb 15. [Epub ahead of print]

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease.
Schmidts M, Frank V, Eisenberger T, Al Turki S, et al.
Hum Mutat. 2013 Feb 15. [Epub ahead of print]

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Sun Y, Almomani R, Breedveld GJ, Santen GW, et al.
Hum Mutat. 2013 Feb 15. [Epub ahead of print]

Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas.
Fontebasso AM, Schwartzentruber J, Khuong-Quang DA, Liu XY, et al.
Acta Neuropathol. 2013 Feb 16. [Epub ahead of print]

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
Beuschlein F, Boulkroun S, Osswald A, Wieland T, et al.
Nat Genet. 2013 Feb 17. [Epub ahead of print]

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.
Risgaard B, Jabbari R, Refsgaard L, Holst AG, et al.
Clin Genet. 2013 Feb 15. [Epub ahead of print]

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Davidson AE, Siddiqui FM, Lopez MA, Lunt P, et al.
Brain. 2013 Feb;136(Pt 2):508-21.

Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer.
Weischenfeldt J, Simon R, Feuerbach L, Schlangen K, et al.
Cancer Cell. 2013 Feb 11;23(2):159-70.

A mutation in VEGFC, a ligand for VEGFR3, is associated with autosomal dominant Milroy-like primary lymphedema.
Gordon K, Schulte D, Brice G, Simpson MA, et al.
Circ Res. 2013 Feb 14. [Epub ahead of print]

Pyrosequencing dried blood spots reveals differences in HIV drug resistance between treatment naïve and experienced patients.
Ji H, Li Y, Liang B, Pilon R, et al.
PLoS One. 2013;8(2):e56170.

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
Ishii A, Saito Y, Mitsui J, Ishiura H, et al.
PLoS One. 2013;8(2):e56120.

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.
Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, et al.
PLoS One. 2013;8(2):e55681.

DNA-methylome analysis of mouse intestinal adenoma identifies a tumour-specific signature that is partly conserved in human colon cancer.
Grimm C, Chavez L, Vilardell M, Farrall AL, et al.
PLoS Genet. 2013 Feb;9(2):e1003250.

Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy.
Chen TT, Klassen TL, Goldman AM, Marini C, et al.
Neurology. 2013 Feb 13. [Epub ahead of print]

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.
Nuytemans K, Bademci G, Inchausti V, Dressen A, et al.
Neurology. 2013 Feb 13. [Epub ahead of print]

Outbreak investigation using high-throughput genome sequencing within a diagnostic microbiology laboratory.
Sherry NL, Porter JL, Seemann T, Watkins A, et al.
J Clin Microbiol. 2013 Feb 13. [Epub ahead of print]

Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes.
Cortes A, Field J, Glazov EA, Hadler J, et al.
Hum Mol Genet. 2013 Feb 12. [Epub ahead of print]

A multi-omic systems-based approach reveals metabolic markers of bacterial vaginosis and insight into the disease.
Yeoman CJ, Thomas SM, Miller ME, Ulanov AV, et al.
PLoS One. 2013;8(2):e56111.

A high-dimensional, deep-sequencing study of lung adenocarcinoma in female never-smokers.
Kim SC, Jung Y, Park J, Cho S, et al.
PLoS One. 2013;8(2):e55596.

Secretory meningiomas are defined by combined KLF4 K409Q and TRAF7 mutations.
Reuss DE, Piro RM, Jones DT, Simon M, et al.
Acta Neuropathol. 2013 Feb 12. [Epub ahead of print]

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J, Belaya K, Hicks D, Salih MA, et al.
Brain. 2013 Feb 11. [Epub ahead of print]

Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.
Amiñoso C, Vallespin E, Fernández L, Arrabal LF, et al.
Gene. 2013 Feb 9. pii: S0378-1119(13)00124-8.

Analysis of 454 sequencing error rate, error sources, and artifact recombination for detection of low-frequency drug resistance mutations in HIV-1 DNA.
Shao W, Boltz VF, Spindler JE, Kearney MF, et al.
Retrovirology. 2013 Feb 13;10(1):18.

Mitochondrial DNA nucleotide changes in primary congenital glaucoma patients.
Kumar M, Tanwar M, Faiq MA, Pani J, et al.
Mol Vis. 2013;19:220-30.

Molecular network of chromatin immunoprecipitation followed by deep sequencing-based vitamin D receptor target genes.
Satoh JI, Tabunoki H.
Mult Scler. 2013 Feb 11. [Epub ahead of print]

Disclosure of incidental findings from next-generation sequencing in pediatric genomic research.
Abdul-Karim R, Berkman BE, Wendler D, Rid A, et al.
Pediatrics. 2013 Feb 11. [Epub ahead of print]

High throughput HLA genotyping using 454 sequencing and the Fluidigm Access Array system for simplified amplicon library preparation.
Moonsamy PV, Williams T, Bonella P, Holcomb CL, et al.
Tissue Antigens. 2013 Mar;81(3):141-9.

HDAM: a resource of human disease associated mutations from next generation sequencing studies.
Jia M, Liu Y, Shen Z, Zhao C, et al.
BMC Med Genomics. 2013;6 Suppl 1:S16.