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Clinical Sequencing Papers of Note: May 4, 2011


Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
Bowen ME, Boyden ED, Holm IA, et al.
PLoS Genet. 2011 Apr;7(4):e1002050. Epub 2011 Apr 14.

Massive-scale RNA-seq analysis of non ribosomal transcriptome in human trisomy 21.
Costa V, Angelini C, D'Apice L, et al.
PLoS One. 2011 Apr 20;6(4):e18493.

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.
Klein CJ, Botuyan MV, Wu Y, et al.
Nat Genet. 2011 May 1. [Epub ahead of print]

Cross-validation study for epidermal growth factor receptor and KRAS mutation detection in 74 blinded non-small cell lung carcinoma samples: a total of 5550 exons sequenced by 15 molecular French laboratories (Evaluation of the EGFR Mutation Status for the Administration of EGFR-TKIs in Non-Small Lung Carcinoma [ERMETIC] project — part 1) .
Beau-Faller M, Degeorges A, Rolland E, et al.
J Thorac Oncol. 2011 Apr 28. [Epub ahead of print]

Comprehensive analysis of epidermal growth factor receptor gene status in lung adenocarcinoma.
Li C, Sun Y, Fang Z, et al.
J Thorac Oncol. 2011 Apr 28. [Epub ahead of print]

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB.
J Bone Joint Surg Am. 2011 Apr 29. [Epub ahead of print]

IRF8 mutations and human dendritic-cell immunodeficiency.
Hambleton S, Salem S, Bustamante J, et al.
N Engl J Med. 2011 Apr 27. [Epub ahead of print]

Lex-svm: exploring the potential of exon expression profiling for disease classification.
Yuan X, Zhao Y, Liu C, Bu D.
J Bioinform Comput Biol. 2011 Apr;9(2):299-316.

Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.
Capanu M, Concannon P, Haile RW, et al.
Genet Epidemiol. 2011 Apr 25. doi: 10.1002/gepi.20587. [Epub ahead of print]

Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder.
Sundaram SK, Huq AM, Sun Z, et al.
Ann Neurol. 2011 May;69(5):901-4. doi: 10.1002/ana.22398.

Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot.
Wang J, Lu Y, Chen H, Yin M, Yu T, Fu Q.
Pathology. 2011 Apr 22. [Epub ahead of print]

Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood.
Sehnert AJ, Rhees B, Comstock D, et al.
Clin Chem. 2011 Apr 25. [Epub ahead of print]

Fanconi' s anemia in adulthood: chemoradiation-induced bone marrow failure and a novel FANCA mutation identified by targeted deep sequencing.
Tan IB, Cutcutache I, Zang ZJ, et al.
J Clin Oncol. 2011 Apr 25. [Epub ahead of print]

TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression.
Jädersten M, Saft L, Smith A, et al.
J Clin Oncol. 2011 Apr 25. [Epub ahead of print]

The Scan

Pig Organ Transplants Considered

The Wall Street Journal reports that the US Food and Drug Administration may soon allow clinical trials that involve transplanting pig organs into humans.

'Poo-Bank' Proposal

Harvard Medical School researchers suggest people should bank stool samples when they are young to transplant when they later develop age-related diseases.

Spurred to Develop Again

New Scientist reports that researchers may have uncovered why about 60 percent of in vitro fertilization embryos stop developing.

Science Papers Examine Breast Milk Cell Populations, Cerebral Cortex Cellular Diversity, Micronesia Population History

In Science this week: unique cell populations found within breast milk, 100 transcriptionally distinct cell populations uncovered in the cerebral cortex, and more.