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Last Week's Clinical Sequencing Papers of Note: Apr 30, 2014


Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.
Balabanski L, Antov G, Dimova I, Ivanov S, et al.
Mol Clin Oncol. 2014 May;2(3):435-439.

Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.
Wang Y, Yang Y, Liu J, Chen XC, et al.
Mol Genet Genomics. 2014 Apr 27. [Epub ahead of print]

Next-generation sequencing of maternal serum to detect viruses in women with labor or premature rupture of membranes.
Shah AA, Wang D, Hirsch E.
Obstet Gynecol. 2014 May;123 Suppl 1:35S-6S.

Noninvasive aneuploidy detection by multiplexed amplification and sequencing of polymorphic loci.
Rabinowitz M, Valenti E, Pettersen B, Sigurjonsson S, et al.
Obstet Gynecol. 2014 May;123 Suppl 1:167S.

Noninvasive cell-free DNA-based prenatal detection of microdeletions using single nucleotide polymorphism-targeted sequencing.
Rabinowitz M, Savage M, Pettersen B, Sigurjonsson S, et al.
Obstet Gynecol. 2014 May;123 Suppl 1:167S.

Immunoglobulin and T-cell receptor gene high-throughput sequencing quantifies minimal residual disease in acute lymphoblastic leukemia and predicts post-transplant relapse and survival.
Logan AC, Vashi N, Faham M, Carlton V, et al.
Biol Blood Marrow Transplant. 2014 Apr 23. pii: S1083-8791(14)00257-2.

Clinical utility of whole-exome sequencing in rare diseases: galactosialidosis.
Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, et al.
Eur J Med Genet. 2014 Apr 23. pii: S1769-7212(14)00090-1.

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations.
Brady P, Van Houdt J, Callewaert B, Deprest J, et al.
Eur J Med Genet. 2014 Apr 22. pii: S1769-7212(14)00091-3.

Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing.
Ma D, Ge H, Li X, Jiang T, et al.
Gene. 2014 Apr 24. pii: S0378-1119(14)00486-7.

Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
Patel N, Khan AO, Mansour A, Mohamed JY, et al.
Am J Hum Genet. 2014 Apr 22. pii: S0002-9297(14)00174-8.

Standardized decision support in next generation sequencing reports of somatic cancer variants.
Dienstmann R, Dong F, Borger D, Dias-Santagata D, et al.
Mol Oncol. 2014 Apr 4. pii: S1574-7891(14)00069-6.

Lung microbiome and disease progression in idiopathic pulmonary fibrosis: an analysis of the COMET study.
Han MK, Zhou Y, Murray S, Tayob N, et al.
Lancet Respir Med. 2014 Apr 17. pii: S2213-2600(14)70069-4.

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
Woo HM, Park HJ, Park MH, Kim BY, et al.
BMC Med Genet. 2014 Apr 28;15(1):46.

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, et al.
Orphanet J Rare Dis. 2014 Apr 25;9(1):59.

Molecular heterogeneity of head and neck squamous cell carcinoma defined by next-generation sequencing.
Zhang P, Mirani N, Baisre A, Fernandes H.
Am J Pathol. 2014 May;184(5):1323-30.

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Karaca E, Weitzer S, Pehlivan D, Shiraishi H, et al.
Cell. 2014 Apr 24;157(3):636-50.

Frequent mutations in EGFR, KRAS and TP53 genes in human lung cancer tumors detected by Ion Torrent DNA sequencing.
Cai X, Sheng J, Tang C, Nandakumar V, et al.
PLoS One. 2014 Apr 23;9(4):e95228.

DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies.
Selcen D, Shen XM, Brengman J, Li Y, et al.
Neurology. 2014 Apr 23. [Epub ahead of print]

Bacterial whole genome sequencing revisited: portable, scalable and standardized analysis for typing and detection of virulence and antibiotic resistance genes.
Leopold SR, Goering RV, Witten A, Harmsen D, Mellmann A.
J Clin Microbiol. 2014 Apr 23. [Epub ahead of print]

Guidelines for investigating causality of sequence variants in human disease.
MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, et al.
Nature. 2014 Apr 24;508(7497):469-76.

Analytical validation of whole exome and whole genome sequencing for clinical applications.
Linderman MD, Brandt T, Edelmann L, Jabado O, et al.
BMC Med Genomics. 2014 Apr 23;7(1):20.

Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia.
Pan LL, Huang YM, Wang M, Zhuang XE, et al.
Eur J Hum Genet. 2014 Apr 23. [Epub ahead of print]

A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance.
Xia J, Jia P, Hutchinson KE, Dahlman KB, et al.
Mol Cancer Ther. 2014 Apr 22. [Epub ahead of print]

RNA sequencing shows transcriptomic changes in rectosigmoid mucosa in patients with irritable bowel syndrome-diarrhea: a pilot case-control study.
Camilleri M, Carlson P, Acosta A, Busciglio IA, et al.
Am J Physiol Gastrointest Liver Physiol. 2014 Apr 24. [Epub ahead of print]

Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4.
Collopy LC, Walne AJ, Vulliamy TJ, Dokal IS.
Haematologica. 2014 Apr 24. [Epub ahead of print]

A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.
Zhang K, Lin JW, Wang J, Wu X, et al.
Genet Med. 2014 Apr 24. [Epub ahead of print]

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
Laduca H, Stuenkel AJ, Dolinsky JS, Keiles S, et al.
Genet Med. 2014 Apr 24. [Epub ahead of print]

Molecular diagnosis of putative stargardt disease by capture next generation sequencing.
Zhang X, Ge X, Shi W, Huang P, et al.
PLoS One. 2014 Apr 24;9(4):e95528.

Causes of hemolysis in neonates with extreme hyperbilirubinemia.
Christensen RD, Nussenzveig RH, Yaish HM, Henry E, et al.
J Perinatol. 2014 Apr 24. [Epub ahead of print]

Next-generation sequencing of peripheral B-lineage cells pinpoints the circulating clonotypic cell pool in multiple myeloma.
Thiele B, Kloster M, Alawi M, Indenbirken D, et al.
Blood. 2014 Apr 21. [Epub ahead of print]

No small surprise - Small-cell carcinoma of the ovary, hypercalcaemic type is a malignant rhabdoid tumour.
Foulkes WD, Clarke BA, Hasselblatt M, Majewski J, et al.
J Pathol. 2014 Apr 21. [Epub ahead of print]

High-throughput sequencing exclusively identified a novel Torque teno virus genotype in serum of a patient with fatal fever.
Mi Z, Yuan X, Pei G, Wang W, et al.
Virol Sin. 2014 Apr;29(2):112-8.

Mutated tumor alleles are expressed according to their DNA frequency.
Castle JC, Loewer M, Boegel S, Tadmor AD, et al.
Sci Rep. 2014 Apr 22;4:4743.

Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer.
Lohr JG, Adalsteinsson VA, Cibulskis K, Choudhury AD, et al.
Nat Biotechnol. 2014 Apr 20. [Epub ahead of print]

RNA sequencing identifies novel markers of non-small cell lung cancer.
Han SS, Kim WJ, Hong Y, Hong SH, et al.
Lung Cancer. 2014 Mar 26. [Epub ahead of print]

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
Park HJ, Kim HJ, Hong YB, Nam SH, et al.
J Peripher Nerv Syst. 2014 Apr 17. [Epub ahead of print]

Whole exome sequencing to estimate alloreactivity potential between donors and recipients in stem cell transplantation.
Sampson JK, Sheth NU, Koparde VN, Scalora AF, et al.
Br J Haematol. 2014 Apr 18. [Epub ahead of print]