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In Print: Last Week's Clinical Sequencing Papers of Note: Oct 10, 2012


Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, et al.
Brain. 2012 Oct 4. [Epub ahead of print]

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.
Drielsma A, Jalas C, Simonis N, Désir J, et al.
J Med Genet. 2012 Oct 5. [Epub ahead of print]

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.
Xu B, Ionita-Laza I, Roos JL, Boone B, et al.
Nat Genet. 2012 Oct 3. [Epub ahead of print]

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
Horani A, Druley TE, Zariwala MA, Patel AC, et al.
Am J Hum Genet. 2012 Oct 5;91(4):685-93.

Human β cell transcriptome analysis uncovers lncRNAs that are tissue-specific, dynamically regulated, and abnormally expressed in type 2 diabetes.
Morán I, Akerman I, van de Bunt M, Xie R, et al.
Cell Metab. 2012 Oct 3;16(4):435-48.

CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.
Mitsui J, Matsukawa T, Ishiura H, Higasa K, et al.
Am J Med Genet B Neuropsychiatr Genet. 2012 Oct 4. [Epub ahead of print]

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing.
Shamseldin HE, Swaid A, Alkuraya FS.
Genet Med. 2012 Oct 4. [Epub ahead of print]

Identification of cross-reactive IgG antibodies from an acute HIV-1-infected patient using phage display and high-throughput sequencing technologies.
Chen W, Prabakaran P, Zhu Z, Feng Y, et al.
Exp Mol Pathol. 2012 Oct 1. [Epub ahead of print]

Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies.
Lau TK, Jiang F, Chan MK, Zhang H, et al.
J Matern Fetal Neonatal Med. 2012 Oct 4. [Epub ahead of print]

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, et al.
Sci Transl Med. 2012 Oct 3;4(154):154ra135. (See our coverage of this paper here.)

Gene expression profiles in paired gingival biopsies from periodontitis-affected and healthy tissues revealed by massively parallel sequencing.
Davanian H, Stranneheim H, Båge T, Lagervall M, et al.
PLoS One. 2012;7(9):e46440.

A genotypic test for HIV-1 tropism combining Sanger sequencing with ultradeep sequencing predicts virologic response in treatment-experienced patients.
Kagan RM, Johnson EP, Siaw M, Biswas P, et al.
PLoS One. 2012;7(9):e46334.

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, et al.
J Hum Genet. 2012 Oct 4. [Epub ahead of print]

Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, et al.
N Engl J Med. 2012 Oct 3. [Epub ahead of print] (See our coverage of this paper here.)

Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing.
Michils G, Hollants S, Dehaspe L, Van Houdt J, et al.
J Mol Diagn. 2012 Sep 25. [Epub ahead of print]

Genome and transcriptome sequencing of lung cancers reveal diverse mutational and splicing events.
Liu J, Lee W, Jiang Z, Chen Z, et al.
Genome Res. 2012 Oct 2. [Epub ahead of print]

Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP.
Schuster B, Knies K, Stoepker C, Velleuer E, et al.
Hum Mutat. 2012 Oct 3. [Epub ahead of print]

Metagenomic sequencing of the human gut microbiome before and after bariatric surgery in obese patients with type 2 diabetes: correlation with inflammatory and metabolic parameters.
Graessler J, Qin Y, Zhong H, Zhang J, et al.
Pharmacogenomics J. 2012 Oct 2. [Epub ahead of print]

High-throughput sequencing identifies an NFIA/CBFA2T3 fusion gene in acute erythroid leukemia with t(1;16)(p31;q24).
Micci F, Thorsen J, Panagopoulos I, Nyquist KB, et al.
Leukemia. 2012 Sep 11. [Epub ahead of print]

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Thompson ER, Doyle MA, Ryland GL, Rowley SM, et al.
PLoS Genet. 2012 Sep;8(9):e1002894.

Deep sequencing of antiviral T-cell responses to HCMV and EBV in humans reveals a stable repertoire that is maintained for many years.
Klarenbeek PL, Remmerswaal EB, Ten Berge IJ, Doorenspleet ME, et al.
PLoS Pathog. 2012 Sep;8(9):e1002889.

Confidence-based somatic mutation evaluation and prioritization.
Löwer M, Renard BY, de Graaf J, Wagner M, et al.
PLoS Comput Biol. 2012 Sep;8(9):e1002714.

Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer.
Liang H, Cheung LW, Li J, Ju Z, et al.
Genome Res. 2012 Oct 1. [Epub ahead of print]

The Scan

Support for Moderna Booster

An FDA advisory committee supports authorizing a booster for Moderna's SARS-CoV-2 vaccine, CNN reports.

Testing at UK Lab Suspended

SARS-CoV-2 testing at a UK lab has been suspended following a number of false negative results.

J&J CSO to Step Down

The Wall Street Journal reports that Paul Stoffels will be stepping down as chief scientific officer at Johnson & Johnson by the end of the year.

Science Papers Present Proteo-Genomic Map of Human Health, Brain Tumor Target, Tool to Infer CNVs

In Science this week: gene-protein-disease map, epigenomic and transcriptomic approach highlights potential therapeutic target for gliomas, and more