Skip to main content
Premium Trial:

Request an Annual Quote

In Print: Last Week's Clinical Sequencing Papers of Note: Nov 6, 2013


Variobox: Automatic detection and annotation of human genetic variants.
Gaspar P, Lopes P, Oliveira J, Santos R, et al.
Hum Mutat. 2013 Nov 4. [Epub ahead of print]

Alterations in chromatin accessibility and DNA methylation in clear cell renal cell carcinoma.
Buck MJ, Raaijmakers LM, Ramakrishnan S, Wang D, et al.
Oncogene. 2013 Nov 4. [Epub ahead of print]

RNA-seq identifies clinically relevant fusion genes in leukemia including a novel MEF2D/CSF1R fusion responsive to imatinib.
Lilljebjorn H, Agerstam H, Orsmark-Pietras C, Rissler M, et al.
Leukemia. 2013 Nov 4. [Epub ahead of print]

A T18 false negative result by NIPT in a XXX, T18 case due to placental mosaicism.
Gao Y, Stejskal D, Jiang F, Wang W.
Ultrasound Obstet Gynecol. 2013 Nov 1. [Epub ahead of print]

Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers.
Chan-On W, Nairismägi ML, Ong CK, Lim WK, et al.
Nat Genet. 2013 Nov 3. [Epub ahead of print]

Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.
Jiao Y, Pawlik TM, Anders RA, Selaru FM, et al.
Nat Genet. 2013 Nov 3. [Epub ahead of print]

DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies.
D'Argenio V, Frisso G, Precone V, Boccia A, et al.
J Mol Diagn. 2013 Oct 30. [Epub ahead of print]

Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M mutant pediatric high-grade gliomas.
Bender S, Tang Y, Lindroth AM, Hovestadt V, et al.
Cancer Cell. 2013 Oct 30. [Epub ahead of print]

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, et al.
Am J Hum Genet. 2013 Oct 30. [Epub ahead of print]

Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs.
Ye K, Beekman M, Lameijer EW, Zhang Y, et al.
Twin Res Hum Genet. 2013 Nov 4:1-7. [Epub ahead of print]

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.
Pyle A, Griffin H, Duff J, Bennett S, et al.
J Neurogenet. 2013 Nov 4. [Epub ahead of print]

C5orf42 is the major gene responsible for OFD syndrome type VI.
Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, et al.
Hum Genet. 2013 Nov 1. [Epub ahead of print]

Epidemiological investigation of Pseudomonas aeruginosa isolates from a six-year-long hospital outbreak using high-throughput whole genome sequencing.
Snyder L, Loman N, Faraj L, Levi K, et al.
Euro Surveill. 2013 Oct 17;18(42).

Ultra-deep pyrosequencing and molecular modeling identify key structural features of hepatitis B virus RNase H, a putative target for antiviral intervention.
Hayer J, Rodriguez C, Germanidis G, Deléage G, et al.
J Virol. 2013 Oct 30. [Epub ahead of print]

Comprehensive genomic analyses of a metastatic colon cancer to the lung by whole exome sequencing and gene expression analysis.
Fang LT, Lee S, Choi H, Kim HK, et al.
Int J Oncol. 2013 Oct 25. [Epub ahead of print]

Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.
Guo H, Tong P, Peng Y, Wang T, et al.
Clin Genet. 2013 Oct 30. [Epub ahead of print]

Rapid whole genome sequencing for the detection and characterization of microorganisms directly from clinical samples.
Hasman H, Saputra D, Sicheritz-Ponten T, Lund O, et al..
J Clin Microbiol. 2013 Oct 30. [Epub ahead of print]

Feasibility of targeted next-generation sequencing of the TP53 and ATM genes in chronic lymphocytic leukemia.
Mansouri L, Sutton LA, Ljungström V, Sörqvist EF, et al.
Leukemia. 2013 Oct 31. [Epub ahead of print]

WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme.
Straver R, Sistermans EA, Holstege H, Visser A, et al.
Nucleic Acids Res. 2013 Oct 28. [Epub ahead of print]

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Piton A, Poquet H, Redin C, Masurel A, et al.
Eur J Hum Genet. 2013 Oct 30. [Epub ahead of print]

Isolation of human genomic DNA for genetic analysis from premature neonates: a comparison between newborn dried blood spots, whole blood and umbilical cord tissue.
Rajatileka S, Luyt K, El-Bokle M, Williams M, et al.
BMC Genet. 2013 Oct 29;14(1):105.

Identification of novel viruses using VirusHunter — an automated data analysis pipeline.
Zhao G, Krishnamurthy S, Cai Z, Popov VL, et al.
PLOS One. 2013 Oct 22;8(10):e78470.

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Thomas S, Wright KJ, Le Corre S, Micalizzi A, et al.
Hum Mutat. 2013 Oct 25. [Epub ahead of print]

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
Mutai H, Suzuki N, Shimizu A, Torii C, et al.
Orphanet J Rare Dis. 2013 Oct 28;8(1):172.

Post-allogeneic monitoring with molecular markers detected by pre-transplant next-generation (NGS) or Sanger sequencing predicts clinical relapse in patients with myelodysplastic/myeloproliferative neoplasms.
Fu Y, Schroeder T, Zabelina T, Badbaran A, et al.
Eur J Haematol. 2013 Oct 25. [Epub ahead of print]

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Dyment D, Sell E, Vanstone M, Smith A, et al.
Clin Genet. 2013 Oct 25. [Epub ahead of print]

Deep sequencing of viral genomes provides insight into the evolution and pathogenesis of varicella zoster virus and its vaccine in humans.
Depledge D, Kundu S, Jensen N, Gray E, et al.
Mol Biol Evol. 2013 Oct 25. [Epub ahead of print]

Improved exome prioritization of disease genes through cross species phenotype comparison.
Robinson P, Köhler S, Oellrich A, et al.
Genome Res. 2013 Oct 25. [Epub ahead of print]

A novel mutation of the SCL25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.
Liu G, Wei X, Chen R, Zhou H, et al.
Gene. 2013 Oct 23. [Epub ahead of print]