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Last Week's Clinical Sequencing Papers of Note: Apr 16, 2014


Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis.
Raykova D1, Klar J1, Azhar A2, Khan TN2, Malik NA2, et al.
PLoS One. 2014 Apr 8;9(4):e93607.

Bayesian inference of infectious disease transmission from whole genome sequence data.
Didelot X1, Gardy J, Colijn C.
Mol Biol Evol. 2014 Apr 8. [Epub ahead of print]

Global transcriptome analysis of formalin-fixed prostate cancer specimens identifies biomarkers of disease recurrence.
Long Q1, Xu J, Osunkoya AO, Sannigrahi S, Johnson BA, et al.
Cancer Res. 2014 Apr 8. [Epub ahead of print]

Universal genetic screening uncoversa novel presentation of an SDHAF2 mutation.
Garrahy A1, Tuthill A, O' Halloran D, Joyce C, Casey MB, O'Shea P, Bell M.
J Clin Endocrinol Metab. 2014 Apr 8. [Epub ahead of print]

Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project.
Kim DS1, Crosslin DR, Auer PL, Suzuki SM, Marsillach J, et al.
J Lipid Res. 2014 Apr 7. [Epub ahead of print]

Distinctive properties of identical twins' TCR repertoires revealed by high-throughput sequencing.
Zvyagin IV1, Pogorelyy MV, Ivanova ME, Komech EA, Shugay M, et al.
Proc Natl Acad Sci U S A. 2014 Apr 7. [Epub ahead of print]

Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene.
Hackenberg A1, Baumer A2, Sticht H3, Schmitt B1, Kroell-Seger J4, et al.
Neuropediatrics. 2014 Apr 7. [Epub ahead of print]

Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease.
Hao X1, Liu S2, Dong Q1, Zhang H1, Zhao J1, Su L1.
PLoS One. 2014 Apr 7;9(4):e92661.

A Targeted Next-Generation Sequencing Assay Detects a High Frequency of Therapeutically Targetable Alterations in Primary and Metastatic Breast Cancers: Implications for Clinical Practice.
Vasan N1, Yelensky R, Wang K, Moulder S, Dzimitrowicz H, et al.
Oncologist. 2014 Apr 7. [Epub ahead of print]

The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes.
Huether R1, Dong L2, Chen X3, Wu G3, Parker M3, Wei L3, Ma J4, Edmonson MN3, Hedlund EK3, Rusch MC3, Shurtleff SA4, Mulder HL5, Boggs K5, et al.
Nat Commun. 2014 Apr 8;5:3630.

RNA-sequencing analysis reveals new alterations in cardiomyocyte cytoskeletal genes in patients with heart failure.
Herrer I1, Roselló-Lletí E1, Rivera M1, Molina-Navarro MM1, et al.
Lab Invest. 2014 Apr 7. [Epub ahead of print]

Whole-genome analysis of a patient with early-stage small-cell lung cancer.
Han JY1, Lee YS2, Kim BC3, Lee GK1, Lee S4, Kim EH5, Kim HM6, Bhak J4.
Pharmacogenomics J. 2014 Apr 8. [Epub ahead of print]

VCGDB: a dynamic genome database of the Chinese population.
Ling Y, Jin Z, Su M, Zhong J, Zhao Y, Yu J, Wu J, Xiao J.
BMC Genomics. 2014 Apr 5;15(1):265.

ARMC5 Mutations are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia.
Alencar GA1, Lerario AM, Nishi MY, Mariani BM, Almeida MQ, et al.
J Clin Endocrinol Metab 2014 Apr 7:jc20134237. [Epub ahead of print]

Processed pseudogenes acquired somatically during cancer development.
Cooke SL1, Shlien A1, Marshall J1, Pipinikas CP2, Martincorena I1, et al.
Nat Commun. 2014 Apr 9;5:3644.

Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing.
Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.
PLoS One. 2014 Apr 11;9(4):e94554.

Fusion Transcript Discovery in Formalin-Fixed Paraffin-Embedded Human Breast Cancer Tissues Reveals a Link to Tumor Progression.
Ma Y, Ambannavar R, Stephans J, Jeong J, Dei Rossi A, Liu ML, et al.
PLoS One. 2014 Apr 11;9(4):e94202.

Whole-exome sequencing in familial atrial fibrillation.
Weeke P, Muhammad R, Delaney JT, Shaffer C, et al.
Eur Heart J. 2014 Apr 11. [Epub ahead of print]

Druggable Oncogene Fusions in Invasive Mucinous Lung Adenocarcinoma.
Nakaoku T, Tsuta K, Ichikawa H, Shiraishi K, Sakamoto H, Enari M, et al.
Clin Cancer Res. 2014 Apr 11. [Epub ahead of print]

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes.
Philips AK, Sirén A, Avela K, Somer M, Peippo M, Ahvenainen M, et al.
Orphanet J Rare Dis. 2014 Apr 11;9(1):49.

Recommendations for Analyzing and Reporting TP53 Gene Variants in the High Throughput Sequencing Era.
Soussi T, Leroy B, Taschner PE.
Hum Mutat. 2014 Apr 12. [Epub ahead of print]

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a serbian patient.
Dobričić V, Kresojević N, Westenberger A, Svetel M, Tomić A, et al.
Mov Disord. 2014 Apr 13. [Epub ahead of print]

Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.
Surowy HM, Sutter C, Mittnacht M, Klaes R, Schaefer D, Evers C, et al.
Breast Cancer Res Treat. 2014 Apr 12. [Epub ahead of print]

The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
Song H, Cicek MS, Dicks E, Harrington P, Ramus SJ, Cunningham JM, et al.
Hum Mol Genet. 2014 Apr 12. [Epub ahead of print]

Pyrosequencing for rapid detection of Tuberculosis resistance in clinical isolates and Sputum samples from re-treatment Pulmonary Tuberculosis patients.
Zheng R, Zhu C, Guo Q, Qin L, Wang J, Lu J, Cui H, Cui Z, Ge B, Liu J, Hu Z.
BMC Infect Dis. 2014 Apr 13;14(1):200.

Defining the Genomic Landscape of Head and Neck Cancers Through Next-Generation Sequencing.
Rizzo G, Black M, Mymryk JS, Barrett JW, Nichols AC.
Oral Dis. 2014 Apr 12. [Epub ahead of print]

Drug-Induced Long QT Syndrome and Exome Sequencing: Chinese Shadows Link Past and Future.
Crotti L, Schwartz PJ.
J Am Coll Cardiol. 2014 Apr 15;63(14):1438-40.

Exome Sequencing Implicates an Increased Burden of Rare Potassium Channel Variants in the Risk of Drug-Induced Long QT Interval Syndrome.
Weeke P, Mosley JD, Hanna D, Delaney JT, Shaffer C, Wells QS, et al.
J Am Coll Cardiol. 2014 Apr 15;63(14):1430-7.

Patient-specific induced-pluripotent stem cells derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.
Tse HF, Ho JC, Choi SW, Butler AW, Ng KM, Siu CW, Simpson MA, et al.
Hum Mol Genet. 2014 Apr 15;23(8):2232-3.

Genomic tools in acute myeloid leukemia: From the bench to the bedside.
White BS, Dipersio JF.
Cancer. 2014 Apr 15;120(8):1134-44.

Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.
Gordon AS, Tabor HK, Johnson AD, Snively BM, Assimes TL, Auer PL, et al.
Hum Mol Genet. 2014 Apr 15;23(8):1957-63.