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In Print: Last Week's Clinical Sequencing Papers of Note: Dec 5, 2012

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Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions.
Lord J, Turton J, Medway C, Shi H, et al.
Int J Mol Epidemiol Genet. 2012;3(4):262-75.


Whole-exome sequencing identifies mutated PCK2 and HUWE1 associated with carcinoma cell proliferation in a hepatocellular carcinoma patient.
Liu YX, Zhang SF, Ji YH, Guo SJ, et al.
Oncol Lett. 2012 Oct;4(4):847-851.


A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.
Nikolaev SI, Sotiriou SK, Pateras IS, Santoni F, et al.
Cancer Res. 2012 Dec 1;72(23):6279-6289.


Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma.
Sausen M, Leary RJ, Jones S, Wu J, et al.
Nat Genet. 2012 Dec 2. [Epub ahead of print]


Massively parallel sequencing of enriched target amplicons for high-resolution genotyping of Salmonella serovars.
Singh P, Foley SL, Nayak R, Kwon YM.
Mol Cell Probes. 2012 Nov 29. [Epub ahead of print]


Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual disability syndrome.
Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, et al.
Am J Hum Genet. 2012 Nov 28. [Epub ahead of print]


Mutations in Ano3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
Charlesworth G, Plagnol V, Holmström KM, Bras J, et al.
Am J Hum Genet. 2012 Nov 27. [Epub ahead of print]


Noninvasive fetal trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies.
Jiang F, Ren J, Chen F, Zhou Y, et al.
BMC Med Genomics. 2012 Dec 1;5(1):57.


Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing.
Leary RJ, Sausen M, Kinde I, Papadopoulos N, et al.
Sci Transl Med. 2012 Nov 28;4(162):162ra154.


Genome-wide screen for aberrantly expressed miRNAs reveals miRNA profile signature in breast cancer.
Guo L, Zhao Y, Yang S, Cai M, et al.
Mol Biol Rep. 2012 Nov 30. [Epub ahead of print]


Exome sequencing in a family with restless legs syndrome.
Weissbach A, Siegesmund K, Brüggemann N, Schmidt A, et al.
Mov Disord. 2012 Nov;27(13):1686-9.


Fetal aneuploidy screening by maternal plasma DNA sequencing: 'False positive' due to confined placental mosaicism.
Choi H, Lau TK, Jiang FM, Chan MK, et al.
Prenat Diagn. 2012 Nov 27. [Epub ahead of print]


Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.
Cukras C, Gaasterland T, Lee P, Gudiseva HV, et al.
PLoS One. 2012;7(11):e50205.


A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
Shimazaki H, Takiyama Y, Ishiura H, Sakai C, et al.
J Med Genet. 2012 Dec;49(12):777-84.


High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
Halbritter J, Diaz K, Chaki M, Porath JD, et al.
J Med Genet. 2012 Dec;49(12):756-67.


Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma.
Nyquist KB, Panagopoulos I, Thorsen J, Haugom L, et al.
PLoS One. 2012;7(11):e49705.


Genome-wide profiling of RNA splicing in prostate tumor from RNA-seq data using virtual microarrays.
Srinivasan S, Patil AH, Verma M, Bingham JL, Srivatsan R.
J Clin Bioinforma. 2012 Nov 26;2(1):21.


High-throughput RNA sequencing of a formalin-fixed, paraffin-embedded autopsy lung tissue sample from the 1918 influenza pandemic.
Xiao YL, Kash JC, Beres SB, Sheng ZM, et al.
J Pathol. 2012 Nov 26. [Epub ahead of print]


Combinational usage of next generation sequencing and qPCR for the analysis of tumour samples.
Loewe RP.
Methods. 2012 Nov 20. [Epub ahead of print]


Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, et al.
Am J Hum Genet. 2012 Nov 20. [Epub ahead of print]


Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Tesson C, Nawara M, Salih MA, Rossignol R, et al.
Am J Hum Genet. 2012 Nov 20. [Epub ahead of print]


Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Haack TB, Hogarth P, Kruer MC, Gregory A, et al.
Am J Hum Genet. 2012 Nov 20. [Epub ahead of print]


Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility.
McGrath JA, Stone KL, Begum R, Simpson MA, et al.
Am J Hum Genet. 2012 Nov 20. [Epub ahead of print]


Weighted pedigree-based statistics for testing the association of rare variants.
Shugart YY, Zhu Y, Guo W, Xiong M.
BMC Genomics. 2012 Nov 24;13(1):667.

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Identified Decades Later

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