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In Print: Last Week's Clinical Sequencing Papers of Note: Jun 12, 2013


Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing.
Klein CJ, Wu Y, Duan X, Middha S, et al.
J Neurol Neurosurg Psychiatry. 2013 Jun 6. [Epub ahead of print]

Parents' interest in whole-genome sequencing of newborns.
Goldenberg AJ, Dodson DS, Davis MM, Tarini BA.
Genet Med. 2013 Jun 6. doi: 10.1038/gim.2013.76. [Epub ahead of print]

Network properties derived from deep sequencing of the human B-cell receptor repertoires delineates B-cell populations.
Bashford-Rogers R, Palser A, Huntly B, Rance R, et al.
Genome Res. 2013 Jun 6. [Epub ahead of print]

Simplified large-scale Sanger genome sequencing for influenza A/H3N2 virus.
Lee HK, Tang JW, Kong DH, Koay ES.
PLoS One. 2013 May 31;8(5):e64785.

Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell terrier dog breed.
Forman OP, De Risio L, Mellersh CS.
PLoS One. 2013 May 31;8(5):e64627.

Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure.
Liu Y, Bai R, Wang L, Zhang C, et al.
PLoS One. 2013 May 31;8(5):e64603.

The landscape of DNA virus associations across human malignant cancers using RNA-seq: an analysis of 3775 cases.
Khoury JD, Tannir NM, Williams MD, Chen Y, et al.
J Virol. 2013 Jun 5. [Epub ahead of print]

Characterization of uterine leiomyomas by whole-genome sequencing.
Mehine M, Kaasinen E, Mäkinen N, Katainen R, et al.
N Engl J Med. 2013 Jun 5. [Epub ahead of print]

A congenital neutrophil defect syndrome associated with mutations in VPS45.
Vilboux T, Lev A, Malicdan MC, Simon AJ, et al.
N Engl J Med. 2013 Jun 5. [Epub ahead of print]

Central precocious puberty caused by mutations in the imprinted gene MKRN3.
Abreu AP, Dauber A, Macedo DB, Noel SD, et al.
N Engl J Med. 2013 Jun 5. [Epub ahead of print]

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.
Huang XF, Xiang P, Chen J, Xing DJ, et al.
PLoS One. 2013 May 30;8(5):e63832.

Accurate prediction of a minimal region around a genetic association signal that contains the causal variant.
Bochdanovits Z, Simón-Sánchez J, Jonker M, Hoogendijk WJ, et al.
Eur J Hum Genet. 2013 Jun 5. [Epub ahead of print]

Modeling the DNA copy number aberration patterns in observational high-throughput cancer data.
van Wieringen WN, Roś BP, Wilting SM.
Stat Appl Genet Mol Biol. 2013 Apr 19;12(2):143-74.

Rapid 16S rRNA next-generation sequencing of polymicrobial clinical samples for diagnosis of complex bacterial infections.
Salipante SJ, Sengupta DJ, Rosenthal C, Costa G, et al.
PLoS One. 2013 May 29;8(5):e65226.

Next-generation sequencing of paired tyrosine kinase inhibitor-sensitive and -resistant EGFR mutant lung cancer cell lines identifies spectrum of DNA changes associated with drug resistance.
Jia P, Jin H, Meador CB, Xia J, et al.
Genome Res. 2013 Jun 3. [Epub ahead of print]

Identification of submicroscopic genetic changes and precise breakpoint mapping in myelofibrosis using high resolution mate-pair sequencing.
Lasho T, Johnson SH, Smith DI, Crispino JD, et al.
Am J Hematol. 2013 Jun 3. [Epub ahead of print]

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.
Krawitz PM, Höchsmann B, Murakami Y, Teubner B, et al.
Blood. 2013 Jun 3. [Epub ahead of print]

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.
Nikolaev SI, Santoni F, Vannier A, Falconnet E, et al.
Blood. 2013 Jun 3. [Epub ahead of print]

Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.
Beicht S, Strobl-Wildemann G, Rath S, Wachter O, et al.
Gene. 2013 May 31. pii: S0378-1119(13)00681-1. [Epub ahead of print]

Routine performance and errors of 454 HLA exon sequencing in diagnostics.
Niklas N, Pröll J, Danzer M, Stabentheiner S, et al.
BMC Bioinformatics. 2013 Jun 3;14(1):176.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Martignetti JA, Tian L, Li D, Ramirez MC, et al.
Am J Hum Genet. 2013 May 22. [Epub ahead of print]

A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
Cheung YH, Gayden T, Campeau PM, Leduc CA, et al.
Am J Hum Genet. 2013 May 22. [Epub ahead of print]

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
Gonzalez M, McLaughlin H, Houlden H, Guo M, et al.
J Neurol Neurosurg Psychiatry. 2013 Jun 1. [Epub ahead of print]

The Scan

Unique Germline Variants Found Among Black Prostate Cancer Patients

Through an exome sequencing study appearing in JCO Precision Oncology, researchers have found unique pathogenic or likely pathogenic variants within a cohort of Black prostate cancer patients.

Analysis of Endogenous Parvoviral Elements Found Within Animal Genomes

Researchers at PLOS Biology have examined the coevolution of endogenous parvoviral elements and animal genomes to gain insight into using the viruses as gene therapy vectors.

Saliva Testing Can Reveal Mosaic CNVs Important in Intellectual Disability

An Australian team has compared the yield of chromosomal microarray testing of both blood and saliva samples for syndromic intellectual disability in the European Journal of Human Genetics.

Octopus Brain Complexity Linked to MicroRNA Expansions

Investigators saw microRNA gene expansions coinciding with complex brains when they analyzed certain cephalopod transcriptomes, as they report in Science Advances.