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Clinical Sequencing Papers of Note: Apr 5, 2011


Universal noninvasive detection of solid organ transplant rejection.
Snyder TM, Khush KK, Valantine HA, Quake SR.
Proc Natl Acad Sci U S A. 2011 Mar 28. [Epub ahead of print]

Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.
Hermanns P, Grasberger H, Refetoff S, Pohlenz J.
J Clin Endocrinol Metab. 2011 Mar 30. [Epub ahead of print]

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.
Al Badr W, Al Bader S, Otto E, et al.
J Pediatr Urol. 2011 Mar 28. [Epub ahead of print]

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.
Glazov EA, Zankl A, Donskoi M, et al.
PLoS Genet. 2011 Mar;7(3):e1002027.

A novel KCNQ1 variant (L203P) associated with torsades de pointes-related syncope in a Steinert syndrome patient.
Patoine D, Hasibu I, Pilote S, et al.
Can J Cardiol. 2011 Mar-Apr;27(2):263.e5-263.e12.

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.
Wei A, Yang X, Lian S, Li W.
J Dermatol Sci. 2011 Mar 5. [Epub ahead of print]

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.
Iascone M, Ciccone R, Galletti L, et al.
Clin Genet. 2011 Apr 1. [Epub ahead of print]

The Scan

Study Finds Sorghum Genetic Loci Influencing Composition, Function of Human Gut Microbes

Focusing on microbes found in the human gut microbiome, researchers in Nature Communications identified 10 sorghum loci that appear to influence the microbial taxa or microbial metabolite features.

Treatment Costs May Not Coincide With R&D Investment, Study Suggests

Researchers in JAMA Network Open did not find an association between ultimate treatment costs and investments in a drug when they analyzed available data on 60 approved drugs.

Sleep-Related Variants Show Low Penetrance in Large Population Analysis

A limited number of variants had documented sleep effects in an investigation in PLOS Genetics of 10 genes with reported sleep ties in nearly 192,000 participants in four population studies.

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.