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Clinical Sequencing Papers of Note: May 31, 2011


Sequence capture and next generation resequencing of the MHC region highlights potential transplantation determinants in HLA Identical haematopoietic stem cell transplantation.
Pröll J, Danzer M, Stabentheiner S, et al.
DNA Res. 2011 May 28. [Epub ahead of print]

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Abou Jamra R, Philippe O, Raas-Rothschild A, et al.
Am J Hum Genet. 2011 May 25. [Epub ahead of print]

A mutation screen in patients with Kabuki syndrome.
Li Y, Bögershausen N, Alanay Y, et al.
Hum Genet. 2011 May 24. [Epub ahead of print]

Somatic mutations in acute promyelocytic leukemia (APL) identified by exome sequencing.
Greif PA, Yaghmaie M, Konstandin NP, et al.
Leukemia. 2011 May 24. [Epub ahead of print]

Discovery of new microRNAs by small RNAome deep sequencing in childhood acute lymphoblastic leukemia.
Schotte D, Moqadam FA, Lange-Turenhout EA, et al.
Leukemia. 2011 May 24. [Epub ahead of print]

Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations.
Song K, Nelson MR, Aponte J, et al.
Pharmacogenomics J. 2011 May 24. [Epub ahead of print]

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
Benaglio P, McGee TL, Capelli LP, et al.
Hum Mutat. 2011 Jun;32(6):E2246-58.

Depicting the role of TP53 in hepatocellular carcinoma progression.
Villanueva A, Hoshida Y.
J Hepatol. 2011 May 14. [Epub ahead of print]

Distinct mutations in MLH1 and MSH2 genes in hereditary non-polyposis colorectal cancer (HNPCC) families from China.
Wei W, Liu F, Liu L, et al.
BMB Rep. 2011 May;44(5):317-22.

The Scan

Mosquitos Genetically Modified to Prevent Malaria Spread

A gene drive approach could be used to render mosquitos unable to spread malaria, researchers report in Science Advances.

Gut Microbiomes Allow Bears to Grow to Similar Sizes Despite Differing Diets

Researchers in Scientific Reports find that the makeup of brown bears' gut microbiomes allows them to reach similar sizes even when feasting on different foods.

Finding Safe Harbor in the Human Genome

In Genome Biology, researchers present a new approach to identify genomic safe harbors where transgenes can be expressed without affecting host cell function.

New Data Point to Nuanced Relationship Between Major Depression, Bipolar Disorder

Lund University researchers in JAMA Psychiatry uncover overlapping genetic liabilities for major depression and bipolar disorder.