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Recent Clinical Sequencing Papers of Note: Jul 2, 2014


A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
Shimojima K, Okumura A, Ikeno M, Nishimura A, et al.
Brain Dev. 2014 Jun 26. [Epub ahead of print]

Molecular Diagnosis of Long-QT syndrome at 10 Days of Life by Rapid Whole Genome Sequencing.
Priest JR, Ceresnak SR, Dewey FE, Malloy-Walton LE, et al.
Heart Rhythm. 2014 Jun 25. [Epub ahead of print]

The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse.
Bandapalli OR, Schuessele S, Kunz JB, Rausch T, et al.
Haematologica. 2014 Jun 27. [Epub ahead of print]

mRNA-Seq reveals novel molecular mechanisms and a robust fingerprint in Graves' disease.
Yin X, Sachidanandam R, Morshed S, Latif R, et al.
J Clin Endocrinol Metab. 2014 Jun 27 [Epub ahead of print]

Integrated RNA and DNA sequencing improves mutation detection in low purity tumors.
Wilkerson MD, Cabanski CR, Sun W, Hoadley KA, et al.
Nucleic Acids Res. 2014 Jun 26. [Epub ahead of print]

Detection of minimal residual disease in patients with B lymphoblastic leukemia by high-throughput sequencing of IGH.
Wu D, Emerson RO, Sherwood AM, Loh ML, et al.
Clin Cancer Res. 2014 Jun 26. [Epub ahead of print]

Mutational analysis of primary central nervous system lymphoma.
Bruno A, Boisselier B, Labreche K, Marie Y, et al.
Oncotarget. 2014 Jun 8. [Epub ahead of print]

Whole Exome Sequencing to Identify Genetic Causes of Short Stature.
Guo MH, Shen Y, Walvoord EC, Miller TC, et al.
Horm Res Paediatr. 2014 Jun 20. [Epub ahead of print]

Delivering noninvasive prenatal testing in a clinical setting using semiconductor sequencing platform.
Gao Y, Xie B, Liu R.
Sci China Life Sci. 2014 Jun 26. [Epub ahead of print]

Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.
Wen H, Kim YC, Snyder C, Xiao F, et al.
BMC Cancer. 2014 Jun 26;14(1):470.

Whole-exome sequencing of endometriosis identifies frequent alterations in genes involved in cell adhesion and chromatin-remodeling complexes.
Li X, Zhang Y, Zhao L, Wang L, et al.
Hum Mol Genet. 2014 Jun 26. [Epub ahead of print]

Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene.
Sun W, Xiao X, Li S, Guo X, Zhang Q.
PLOS One. 2014 Jun 26;9(6):e100455.

RNA-seq reveals determinants for irinotecan sensitivity/resistance in colorectal cancer cell lines.
Li XX, Zheng HT, Peng JJ, Huang LY, et al.
Int J Clin Exp Pathol. 2014 Apr 15;7(5):2729-36.

Validation of Copy Number Variation Sequencing for Detecting Chromosome Imbalances in Human Preimplantation Embryos.
Wang L, Cram DS, Shen J, Wang X, et al.
Biol Reprod. 2014 Jun 25. [Epub ahead of print]

Non-invasive analysis of intestinal development in preterm and term infants using RNA-Sequencing.
Knight JM, Davidson LA, Herman D, Martin CR, et al.
Sci Rep. 2014 Jun 26;4:5453.

High-throughput identification of loss-of-function mutations for anti-interferon activity in influenza A virus NS segment.
Wu NC, Young AP, Al-Mawsawi LQ, Olson CA, et al.
J Virol. 2014 Jun 25. [Epub ahead of print]

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
Nakashima M, Takano K, Osaka H, Aida N , et al.
J Hum Genet. 2014 Jun 26. [Epub ahead of print]

A preliminary study of the relationship between breast cancer metastasis and loss of heterozygosity by using exome sequencing.
Li H, Yang B, Xing K, Yuan N, et al.
Sci Rep. 2014 Jun 26;4:5460.

Exome Sequencing Identifies a Novel MYH7 p.G407C Mutation Responsible for Familial Hypertrophic Cardiomyopathy.
Guo Q, Xu Y, Wang X, Guo Y, et al.
DNA Cell Biol. 2014 Jun 25. [Epub ahead of print]

Returning individual research results for genome sequences of pancreatic cancer.
Johns AL, Miller DK, Simpson SH, Gill AJ, et al.
Genome Med. 2014 May 29;6(5):42.

Copy number variants are a common cause of non-syndromic hearing loss.
Shearer AE, Kolbe DL, Azaiez H, Sloan CM, et al.
Genome Med. 2014 May 22;6(5):37.

High-Throughput Transcriptome Sequencing Identifies Candidate Genetic Modifiers of Vulnerability to Fetal Alcohol Spectrum Disorders.
Garic A, Berres ME, Smith SM.
Alcohol Clin Exp Res. 2014 Jun 24. [Epub ahead of print]

Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes.
Yeo ZX, Wong JC, Rozen SG, Lee AS.
BMC Genomics. 2014 Jun 24;15(1):516.

Absence of cytomegalovirus in high-coverage DNA sequencing of human glioblastoma multiforme.
Tang KW, Hellstrand K, Larsson E.
Int J Cancer. 2014 Jun 24. [Epub ahead of print]

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
Schuster J, Khan TN, Tariq M, Shaiq PA, et al.
BMC Med Genet. 2014 Jun 24;15(1):71.

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
Ellard S, Kivuva E, Turnpenny P, Stals K, et al.
Eur J Hum Genet. 2014 Jun 25. [Epub ahead of print]

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
Al-Maawali A, Dupuis L, Blaser S, Heon E, et al.
Eur J Hum Genet. 2014 Jun 25. [Epub ahead of print]

Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.
Canault M, Ghalloussi D, Grosdidier C, Guinier M, et al.
J Exp Med. 2014 Jun 23. [Epub ahead of print]

Clinical Tumor Sequencing: An Incidental Casualty of the American College of Medical Genetics and Genomics Recommendations for Reporting of Incidental Findings.
Parsons DW, Roy A, Plon SE, Roychowdhury S, Chinnaiyan AM.
J Clin Oncol. 2014 Jun 23. [Epub ahead of print]

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.
Norsworthy PJ, Vandrovcova J, Thomas ER, Campbell A, et al.
BMC Med Genet. 2014 Jun 23;15(1):70.

Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems.
Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, et al.
Clin Pharmacol Ther. 2014 Jun 24. [Epub ahead of print]

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.
Debray FG, Seneca S, Gonce M, Vancampenhaut K, et al.
Mitochondrion. 2014 Jun 20. [Epub ahead of print]

High-Throughput Sequencing Analysis of Post-Liver Transplantation HCV E2 Glycoprotein Evolution in the Presence and Absence of Neutralizing Monoclonal Antibody.
Babcock GJ, Iyer S, Smith HL, Wang Y , et al.
PLOS One. 2014 Jun 23;9(6):e100325.

Genetics patients' perspectives on clinical genomic testing.
McGowan ML, Glinka A, Highland J, Asaad G, Sharp RR .
Per Med. 2013 Jun 1;10(4):339-347.

Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients.
Renieri A, Mencarelli MA, Cetta F, Baldassarri M, et al.
Lung Cancer. 2014 Jun 4. [Epub ahead of print]

Clinical, Genomic and Metagenomic Characterization of Oral Tongue Squamous Cell Carcinoma in Patients Who Do Not Smoke.
Li R, Faden DL, Fakhry C, Langelier C, et al.
Head Neck. 2014 Jun 21. [Epub ahead of print]

Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report.
van den Berg S, Shen Y, Jones SJ, Gibson WT.
J Genet Couns. 2014 Jun 24. [Epub ahead of print]

The genomic landscape of nasopharyngeal carcinoma.
Lin DC, Meng X, Hazawa M, Nagata Y, et al.
Nat Genet. 2014 Jun 22. [Epub ahead of print]

Ordering of mutations in preinvasive disease stages of esophageal carcinogenesis.
Weaver JM, Ross-Innes CS, Shannon N, Lynch AG, et al.
Nat Genet. 2014 Jun 22. [Epub ahead of print]