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In Print: Last Week's Clinical Sequencing Papers of Note: Jul 3, 2013

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Alagille syndrome: a new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA.
Vozzi D, Licastro D, Martelossi S, Athanasakis E, et al.
Mol Syndromol. 2013 Apr;4(4):207-210.


Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.
Govani FS, Giess A, Mollet IG, Begbie ME, et al.
Mol Syndromol. 2013 Apr;4(4):184-196.


Whole-exome sequencing to identify novel somatic mutations in squamous cell lung cancers.
Zheng CX, Gu ZH, Han B, Zhang RX, et al.
Int J Oncol. 2013 Jun 25. [Epub ahead of print]


Approaches to the detection of recessive effects using next generation sequencing data from outbred populations.
Curtis D.
Adv Appl Bioinform Chem. 2013 Jun 11;6:29-35.


Researchers' views on return of incidental genomic research results: qualitative and quantitative findings.
Klitzman R, Appelbaum PS, Fyer A, Martinez J, et al.
Genet Med. 2013 Jun 27. [Epub ahead of print]


Dynamic transcriptomes of human myeloid leukemia cells.
Wang H, Hu H, Zhang Q, Yang Y, et al.
Genomics. 2013 Jun 24. [Epub ahead of print]


Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing.
Jones MA, Rhodenizer D, da Silva C, Huff IJ, et al.
Mol Genet Metab. 2013 May 28. [Epub ahead of print]


Whole genome sequencing in support of wellness and health maintenance.
Patel CJ, Sivadas A, Tabassum R, Preeprem T, et al.
Genome Med. 2013 Jun 27;5(6):58.


Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, et al.
Genome Med. 2013 Jun 27;5(6):57.


Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.
Pach J, Kohl S, Gekeler F, Zobor D.
Mol Vis. 2013 Jun 13;19:1350-1355.


Advancing genetic testing for deafness with genomic technology.
Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, et al.
J Med Genet. 2013 Jun 26. [Epub ahead of print]


Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
Quadri M, Fang M, Picillo M, Olgiati S, et al.
Hum Mutat. 2013 Jun 26. [Epub ahead of print]


The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
Krebs CE, Karkheiran S, Powell JC, Cao M, et al.
Hum Mutat. 2013 Jun 26. [Epub ahead of print]


Integrated molecular analysis of clear-cell renal cell carcinoma.
Sato Y, Yoshizato T, Shiraishi Y, Maekawa S, et al.
Nat Genet. 2013 Jun 24. [Epub ahead of print]


A survey of intragenic breakpoints in glioblastoma identifies a distinct subset associated with poor survival.
Zheng S, Fu J, Vegesna R, Mao Y, et al.
Genes Dev. 2013 Jun 24. [Epub ahead of print]


A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.
Nakhro K, Park JM, Kim YJ, Yoon BR, et al.
Neuromuscul Disord. 2013 Jun 21. [Epub ahead of print]


Identification of mutations in the genome of rotavirus SA11 temperature-sensitive mutants D, H, I and J by whole genome sequences analysis and assignment of tsI to gene 7 encoding NSP3.
Vende P, Gratia M, Duarte MD, Charpilienne A, et al.
Virus Res. 2013 Jun 21. [Epub ahead of print]


Genome-wide analysis and modeling of DNA methylation susceptibility in 30 breast cancer cell lines by using CpG flanking sequences.
An J, Kim K, Rhee SM, Chae H, et al.
J Bioinform Comput Biol. 2013 Jun;11(3):1341003.


Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
Martin M, Maßhöfer L, Temming P, Rahmann S, et al.
Nat Genet. 2013 Jun 23. [Epub ahead of print]


High-throughput 16S rRNA gene sequencing reveals alterations of intestinal microbiota in myalgic encephalomyelitis/chronic fatigue syndrome patients.
Frémont M, Coomans D, Massart S, De Meirleir K.
Anaerobe. 2013 Jun 19. [Epub ahead of print]

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A National Institutes of Health-led team reports in Science that a broadly neutralizing antibody HIV vaccine induced bnAb precursors in 97 percent of those given the vaccine.

Study Uncovers Genetic Mutation in Childhood Glaucoma

A study in the Journal of Clinical Investigation ties a heterozygous missense variant in thrombospondin 1 to childhood glaucoma.

Gene Co-Expression Database for Humans, Model Organisms Gets Update

GeneFriends has been updated to include gene and transcript co-expression networks based on RNA-seq data from 46,475 human and 34,322 mouse samples, a new paper in Nucleic Acids Research says.

New Study Investigates Genomics of Fanconi Anemia Repair Pathway in Cancer

A Rockefeller University team reports in Nature that FA repair deficiency leads to structural variants that can contribute to genomic instability.