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Clinical Sequencing Papers of Note: Sep 24, 2014


Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.
Xue Y, Ankala A, Wilcox WR, Hegde MR.
Genet Med. 2014 Sep 18. [Epub ahead of print]

Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.
Sundaresan P, Simpson DA, Sambare C, Duffy S, et al.
Genet Med. 2014 Sep 18. [Epub ahead of print]

Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.
Greaves LC, Nooteboom M, Elson JL, Tuppen HA, et al.
PLOS Genet. 2014 Sep 18;10(9):e1004620.

Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing Enterobacteriaceae.
Conlan S, Thomas PJ, Deming C, Park M, et al.
Sci Transl Med. 2014 Sep 17;6(254):254ra126.

Tumor clone dynamics in lethal prostate cancer.
Carreira S, Romanel A, Goodall J, Grist E, et al.
Sci Transl Med. 2014 Sep 17;6(254):254ra125.

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.
Lu Y, Zhou X, Jin Z, Cheng J, et al.
J Hum Genet. 2014 Sep 18. [Epub ahead of print]

Targeted genomic analysis of Müllerian adenosarcoma.
Howitt BE, Sholl LM, Dal Cin P, Jia Y, et al.
J Pathol. 2014 Sep 17. [Epub ahead of print]

Comprehensive exploration of novel chimeric transcripts in clear cell renal cell carcinomas using whole transcriptome analysis.
Gotoh M, Ichikawa H, Arai E, Chiku S, et al.
Genes Chromosomes Cancer. 2014 Sep 18. [Epub ahead of print]

Personalized Oncology Suite: integrating next-generation sequencing data and whole-slide bioimages.
Dander A, Baldauf M, Sperk M, Pabinger S, et al.
BMC Bioinformatics. 2014 Sep 18;15(1):306.

Return of results from genomic sequencing: a policy discussion of secondary findings for cancer predisposition.
Johnson KJ, Gehlert S.
J Cancer Policy. 2014 Sep 1;2(3):75-80.

Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.
Zenteno JC, Crespí J, Buentello-Volante B, Buil JA, et al.
Arch Clin Exp Ophthalmol. 2014 Sep 17. [Epub ahead of print]

Microarray-based cell-free DNA analysis improves noninvasive prenatal testing.
Juneau K, Bogard PE, Huang S, Mohseni M, et al.
Fetal Diagn Ther. 2014 Sep 12. [Epub ahead of print]

Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.
Cheng J, Zhou X, Lu Y, Chen J, et al.
Ann Hum Genet. 2014 Sep 17. [Epub ahead of print]

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
Roosing S, van den Born LI, Sangermano R, Banfi S, et al.
Ophthalmology. 2014 Sep 13. [Epub ahead of print]

Highly diverse microbiota in dental root canals in cases of apical periodontitis (data of Illumina sequencing) .
Vengerfeldt V, Spilka K, Saag M, Preem JK, et al.
J Endod. 2014 Sep 13. [Epub ahead of print]

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.
Ben-Salem S, Gleeson JG, Al-Shamsi AM, Islam B, et al.
Metab Brain Dis. 2014 Sep 17. [Epub ahead of print]

The AURORA initiative for metastatic breast cancer.
Zardavas D, Maetens M, Irrthum A, Goulioti T, et al.
Br J Cancer. 2014 Sep 16. [Epub ahead of print]

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Timpson NJ, Walter K, Min JL, Tachmazidou I, et al.
Nat Commun. 2014 Sep 16;5:4871.

Concurrent alterations in TERT, KDM6A, and the BRCA pathway in bladder cancer.
Nickerson ML, Dancik GM, Im KM, Edwards MG, et al.
Clin Cancer Res. 2014 Sep 15;20(18):4935-48.

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
Bagnall RD, Molloy LK, Kalman JM, Semsarian C.
BMC Med Genet. 2014 Sep 16;15(1):99.

Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations.
Tirode F, Surdez D, Ma X, Parker M, et al.
Cancer Discov. 2014 Sep 15. [Epub ahead of print]

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.
Hiniker A, Wong LJ, Berven S, Truong CK, et al.
Acta Neuropathol Commun. 2014 Sep 16;2(1):137.

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Caglayan AO, Comu S, Baranoski JF, Parman Y, et al.
Eur J Med Genet. 2014 Sep 9. [Epub ahead of print]

Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Horpaopan S, Spier I, Zink AM, Altmüller J, et al.
Int J Cancer. 2014 Sep 15. [Epub ahead of print]

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.
Hu H, Wienker TF, Musante L, Kalscheuer VM, et al.
Hum Mutat. 2014 Sep 13. [Epub ahead of print]

Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.
Roberts KG, Li Y, Payne-Turner D, Harvey RC, et al.
N Engl J Med. 2014 Sep 11;371(11):1005-15.