Skip to main content
Premium Trial:

Request an Annual Quote

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

WHO Seeks Booster Pause

According to CNN, the World Health Organization is calling for a moratorium on administering SARS-CoV-2 vaccine boosters until more of the world has received initial doses.

For Those Long Legs

With its genome sequence and subsequent RNAi analyses, researchers have examined the genes that give long legs to daddy longlegs, New Scientist says.

September Plans

The New York Times reports that the US Food and Drug Administration is aiming for early September for full approval of the Pfizer-BioNTech SARS-CoV-2 vaccine.

Nucleic Acids Research Papers on Targeting DNA Damage Response, TSMiner, VarSAn

In Nucleic Acids Research this week: genetic changes affecting DNA damage response inhibitor response, "time-series miner" approach, and more.