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In Print: Last Week's Clinical Sequencing Papers of Note: Jun 20, 2012

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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
Sankaran VG, Ghazvinian R, Do R, Thiru P, et al.
J Clin Invest. 2012 Jun 18. pii: 63597. [Epub ahead of print]


Janus kinase 3-activating mutations identified in natural killer/T-cell lymphoma.
Koo GC, Tan SY, Tang T, Poon SL, et al.
Cancer Discov. 2012 Jun 15. [Epub ahead of print]


Identification of PTK6, via RNA sequencing analysis, as a suppressor of esophageal squamous cell carcinoma.
Ma S, Bao JY, Kwan PS, Chan YP, et al.
Gastroenterology. 2012 Jun 13. [Epub ahead of print]


Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
Beetz C, Pieber TR, Hertel N, Schabhüttl M, et al.
Am J Hum Genet. 2012 Jun 14. [Epub ahead of print]


Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Zhou J, Tawk M, Tiziano FD, Veillet J, et al.
Am J Hum Genet. 2012 Jun 13. [Epub ahead of print]


Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
Johnston JJ, Rubinstein WS, Facio FM, Ng D, et al.
Am J Hum Genet. 2012 Jun 13. [Epub ahead of print]


Familial pityriasis rubra pilaris is caused by mutations in CARD14.
Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, et al.
Am J Hum Genet. 2012 Jun 13. [Epub ahead of print]


A simple method for analyzing exome sequencing data shows distinct levels of nonsynonymous variation for human immune and nervous system genes.
Freudenberg J, Gregersen PK, Freudenberg-Hua Y.
PLoS One. 2012;7(6):e38087.


Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
Bonnefond A, Philippe J, Durand E, Dechaume A, et al.
PLoS One. 2012;7(6):e37423. Epub 2012 Jun 11.


Exome sequencing can improve diagnosis and alter patient management.
Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, et al.
Sci Transl Med. 2012 Jun 13;4(138):138ra78.


Optimal tests for rare variant effects in sequencing association studies.
Lee S, Lin X, Wu MC.
Biostatistics. 2012 Jun 14. [Epub ahead of print]


Microbiota separation and C-reactive protein elevation in treatment naïve pediatric granulomatous Crohn disease.
Kellermayer R, Mir SA, Nagy-Szakal D, Cox SB, et al.
J Pediatr Gastroenterol Nutr. 2012 Jun 13. [Epub ahead of print]


Detecting rare variants for quantitative traits using nuclear families.
Guo W, Shugart YY.
Hum Hered. 2012 Jun 12;73(3):148-158.


Exome sequencing identifies MXRA5 as a novel cancer gene frequently mutated in non-small cell lung carcinoma from Chinese patients.
Xiong D, Li G, Li K, Xu Q, et al.
Carcinogenesis. 2012 Jun 13. [Epub ahead of print]


Effects of informed consent for individual genome sequencing on relevant knowledge.
Kaphingst KA, Facio FM, Cheng MR, Brooks S, et al.
Clin Genet. 2012 Jun 13;9999(999A).


Rapid whole-genome sequencing for investigation of a neonatal MRSA outbreak.
Köser CU, Holden MT, Ellington MJ, Cartwright EJ, et al.
N Engl J Med. 2012 Jun 14;366(24):2267-75.


Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.
Wang Y, Guo L, Cai SP, Dai M, et al.
PLoS One. 2012;7(5):e33673. Epub 2012 May 31.


Molecular characterization of Joubert syndrome in Saudi Arabia.
Alazami AM, Alshammari MJ, Salih MA, Alzahrani F, et al.
Hum Mutat. 2012 Jun 12. [Epub ahead of print]


Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
Berger I, Dor T, Halvardson J, Edvardson S, et al.
Epilepsia. 2012 Jun 12. [Epub ahead of print]


Distinct DNA methylomes of newborns and centenarians.
Heyn H, Li N, Ferreira HJ, Moran S, et al.
Proc Natl Acad Sci U S A. 2012 Jun 11. [Epub ahead of print]


CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
Roberts JL, Buckley RH, Luo B, Pei J, et al.
Proc Natl Acad Sci U S A. 2012 Jun 11. [Epub ahead of print]

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