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Recent Clinical Sequencing Papers of Note: Jul 23, 2014


Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines.
Anderson JA, Hayeems R, Shuman C, Szego MJ, et al.
Clin Genet. 2014 Jul 21. [Epub ahead of print]

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, et al.
Clin Chim Acta. 2014 Jul 18. [Epub ahead of print]

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Bayer D, Martinez C, Sorte H, Forbes L, et al.
Clin Exp Immunol. 2014 Jul 21. [Epub ahead of print]

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.
Bartoli M, Desvignes JP, Lévy N, Krahn M.
Muscle Nerve. 2014 Jul 21. [Epub ahead of print]

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: A retrospective study.
Dyment DA, Tetreault M, Beaulieu CL, Hartley T, et al.
Clin Genet. 2014 Jul 21. [Epub ahead of print]

Living laboratory: Whole-genome sequencing as a learning healthcare enterprise.
Angrist M, Jamal L.
Clin Genet. 2014 Jul 21. [Epub ahead of print]

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.
Watson CM, Crinnion LA, Tzika A, Mills A, et al.
Am J Med Genet A. 2014 Jul 16. [Epub ahead of print]

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Bayram Y, Pehlivan D, Karaca E, Gambin T, et al.
Am J Med Genet A. 2014 Jul 14. [Epub ahead of print]

Lung cancer adrenal gland metastasis: Optimal fine-needle aspirate and touch preparation smear cellularity characteristics for successful theranostic next-generation sequencing.
Gleeson FC, Kipp BR, Levy MJ, Voss JS, et al.
Cancer Cytopathol. 2014 Jul 15. [Epub ahead of print]

Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.
Emrick LT, Murphy L, Shamshirsaz AA, Ruano R, et al.
Am J Med Genet A. 2014 Jul 14. [Epub ahead of print]

Gain-of-function mutation in STIM1 (p.R304W) is associated with Stormorken syndrome.
Morin G, Bruechle NO, Singh AR, Knopp C, et al.
Hum Mutat. 2014 Jul 18. [Epub ahead of print]

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.
Ołdak M, Scieżyńska A, Młynarski W, Borowiec M, et al.
Hum Mutat. 2014 Jul 18. [Epub ahead of print]

Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck BB, Phillips JB, Bartram MP, Wegner J, et al.
Hum Mutat. 2014 Jul 17. [Epub ahead of print]

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Makrythanasis P, Nelis M, Santoni FA, Guipponi M, et al.
Hum Mutat. 2014 Jul 17. [Epub ahead of print]

Noninvasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy.
Song Y, Huang S, Zhou X, Jiang Y, et al.
Ultrasound Obstet Gynecol. 2014 Jul 10. [Epub ahead of print]

Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing.
Macera MJ, Sobrino A, Levy B, Jobanputra V, et al.
Prenat Diagn. 2014 Jul 9. [Epub ahead of print]

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes.
Moltke I, Grarup N, Jørgensen ME, Bjerregaard P, et al.
Nature. 2014 Jun 18. [Epub ahead of print]

TP53, MSH4, and LATS1 germline mutations in a family with clustering of nervous system tumors.
Kim YH, Ohta T, Oh JE, Le Calvez-Kelm F, et al.
Am J Pathol. 2014 Jul 17. [Epub ahead of print]

Maturity onset diabetes of the young in india -a distinctive mutation pattern identified through targeted next generation sequencing.
Chapla A, Mruthyunjaya MD, Asha HS, Varghese D, et al.
Clin Endocrinol (Oxf). 2014 Jul 5. [Epub ahead of print]

Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.
Lim WK, Ong CK, Tan J, Thike AA, et al.
Nat Genet. 2014 Jul 20. [Epub ahead of print]

Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues.
Hallowell N, Hall A, Alberg C, Zimmern R.
J Med Ethics. 2014 Jul 18. [Epub ahead of print]

Whole-genome sequencing reveals clonal expansion of multiresistant Staphylococcus haemolyticus in European hospitals.
Cavanagh JP, Hjerde E, Holden MT, Kahlke T, et al.
J Antimicrob Chemother. 2014 Jul 17. [Epub ahead of print]

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.
Ahola S, Isohanni P, Euro L, Brilhante V, et al.
Neurology. 2014 Jul 18. [Epub ahead of print]

Rapid whole-genome sequencing for detection and characterization of microorganisms directly from clinical samples.
Hasman H, Saputra D, Sicheritz-Ponten T, Lund O, et al.
J Clin Microbiol. 2014 Aug;52(8):3136.

Whole transcriptome RNA-seq analysis: tumorigenesis and metastasis of melanoma.
Zhao H, Li Y, Wang S, Yang Y, et al.
Gene. 2014 Jul 14. [Epub ahead of print]

Loss of function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, et al.
J Clin Endocrinol Metab. 2014 Jul 17 [Epub ahead of print]

Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.
Feng Y, Chen D, Wang GL, Zhang VW, Wong LJ.
Genet Med. 2014 Jul 17. [Epub ahead of print]

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Reinhold WC, Varma S, Sousa F, Sunshine M, et al.
PLOS One. 2014 Jul 17;9(7):e101670.

Modelling of a genetically diverse evolution of systemic mastocytosis with chronic myelomonocytic leukemia (SM-CMML) by next generation sequencing.
Rechsteiner M, Müller R, Reineke T, Goede J, et al.
Exp Hematol Oncol. 2014 Jul 11;3:18.

New lung cancer panel for high-throughput targeted resequencing.
Kim EH, Lee S, Park J, Lee K, et al.
Genomics Inform. 2014 Jun;12(2):50-7.

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.
Gaillard MC, Roche S, Dion C, Tasmadjian A, et al.
Neurology. 2014 Jul 16. [Epub ahead of print]

Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation.
Wells D, Kaur K, Grifo J, Glassner M, et al.
J Med Genet. 2014 Aug;51(8):553-62.

Cutaneous carcinosarcoma: further insights into its mutational landscape through massive parallel genome sequencing.
Paniz-Mondolfi A, Singh R, Jour G, Mahmoodi M, et al.
Virchows Arch. 2014 Jul 17. [Epub ahead of print]

SigFuge: single gene clustering of RNA-seq reveals differential isoform usage among cancer samples.
Kimes PK, Cabanski CR, Wilkerson MD, Zhao N, et al.
Nucleic Acids Res. 2014 Jul 16. [Epub ahead of print]

Noninvasive detection of a balanced fetal translocation from maternal plasma.
Jensen TJ, Kim SK, Boom DV, Deciu C, Ehrich M.
Clin Chem. 2014 Jul 16. [Epub ahead of print]

Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments.
Ferraro MB, Savarese M, Di Fruscio G, Nigro V, Guarracino MR.
J Comput Biol. 2014 Jul 16. [Epub ahead of print]

Genetic mutation analysis of human gastric adenocarcinomas using Ion Torrent sequencing platform.
Xu Z, Huo X, Ye H, Tang C, et al.
PLOS One. 2014 Jul 15;9(7):e100442.

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
Høyer H, Braathen GJ, Busk OL, Holla OL, et al.
Biomed Res Int. 2014;2014:210401.

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.
Parcerisas A, Rubio SE, Muhaisen A, Gómez-Ramos A, et al.
J Alzheimers Dis. 2014 Jul 11. [Epub ahead of print]

Whole exome sequencing of growth restricted offspring identifies gene variants implicated in maturity onset diabetes of the young.
Hillman S, Smart M, Bacchelli C, Ocaka L, Williams DJ.
Arch Dis Child Fetal Neonatal Ed. 2014 Jun;99 Suppl 1:A2.

Cardiac ion channelopathies in unexplained stillbirths.
Addison S, Munroe P, Mein C, Cohen M, et al.
Arch Dis Child Fetal Neonatal Ed. 2014 Jun;99 Suppl 1:A11.

Exome sequencing of multiple affected individuals from an Irish family with Brugada Syndrome uncovers a novel locus for the disorder.
Barc JG, Marsman R, Marsman R, Le Scouarnec S , et al.
Cardiovasc Res. 2014 Jul 15;103 Suppl 1:S61.

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.
Milano A, Vermeer A, Lodder E, Barc J, et al.
Cardiovasc Res. 2014 Jul 15;103 Suppl 1:S60.

The involvement of genes for human hypertrophic dilated cardiomyopathy to experimental polygenic cardiac hypertrophy.
Prestes P, Marques F, Lopez-Campos G, Charchar F, Harrap S.
Cardiovasc Res. 2014 Jul 15;103 Suppl 1:S60.

Whole genome and transcriptome approach in a polygenic model for cardiac hypertrophy identifies Trim55 as a new candidate gene in quantitative trait locus cardiac mass 22.
Prestes P, Marques F, Lopez-Campos G, Harrap S, Charchar F.
Cardiovasc Res. 2014 Jul 15;103 Suppl 1:S4.

Genetic spectrum of idiopathic restrictive cardiomyopathy uncovered by new generation sequencing.
Kostareva A, Gudkova A, Kiselev A, Zlotina A, et al.
Cardiovasc Res. 2014 Jul 15;103 Suppl 1:S104-5.

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.
Murali C, Lu JT, Jain M, Liu DS, et al.
Mol Genet Metab Rep. 2014;1:213-219.

Jejunal cancer with WRN mutation identified from next-generation sequencing: a case study and minireview.
Chang C, Shiah HS, Hsu NY, Huang HY, et al.
Case Rep Surg. 2014;2014:126924.

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Roosing S, Lamers IJ, de Vrieze E, van den Born LI, et al.
Am J Hum Genet. 2014 Jul 9. [Epub ahead of print]

Detection of mutations in myeloid malignancies through paired-sample analysis of microdroplet-polymerase chain reaction deep sequencing data.
Cheng DT, Cheng J, Mitchell TN, Syed A, et al.
J Mol Diagn. 2014 Jul 10. pii: S1525-1578(14)00111-1.

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.
Rimmer A, Phan H, Mathieson I, Iqbal Z, et al.
Nat Genet. 2014 Jul 13. [Epub ahead of print]

The Scan

Could Cost Billions

NBC News reports that the new Alzheimer's disease drug from Biogen could cost Medicare in the US billions of dollars.

Not Quite Sent

The Biden Administration likely won't meet its goal of sending 80 million SARS-CoV-2 vaccine doses abroad by the end of the month, according to the Washington Post.

DTC Regulation Proposals

A new report calls on UK policymakers to review direct-to-consumer genetic testing regulations, the Independent reports.

PNAS Papers on Mosquito MicroRNAs, Acute Kidney Injury, Trichothiodystrophy

In PNAS this week: microRNAs involved in Aedes aegypti reproduction, proximal tubule cell response to kidney injury, and more.