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Clinical Sequencing Papers of Note: Jun 15, 2011


Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing.
Al-Romaih KI, Genovese G, Al-Mojalli H, et al.
Am J Kidney Dis. 2011 Jun 7. [Epub ahead of print]

RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.
Qi XP, Ma JM, Du ZF, et al.
PLoS One. 2011;6(5):e20353.

Association between IL-32 genotypes and outcome in infection-associated acute lung injury.
Arcaroli JJ, Liu N, Yi N, Abraham E.
Crit Care. 2011 Jun 7;15(3):R138.

Improving genetic testing for Gitelman's syndrome.
Hollenberg NK.
Curr Hypertens Rep. 2011 Jun 7. [Epub ahead of print]

Resequencing DCDC5 in the flanking region of an LD-SNP derived from a kidney-yang deficiency syndrome family.
Zhou LP, Liu WW, Zhang TE, et al.
Evid Based Complement Alternat Med. 2011;2011:215653.

A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.
Ding X, Wang B, Luo Y, et al.
Mol Vis. 2011;17:1343-9.

Towards the human colorectal cancer microbiome.
Marchesi JR, Dutilh BE, Hall N, et al.
PLoS One. 2011;6(5):e20447.

IDH1 and IDH2 mutations in pediatric acute leukemia.
Andersson AK, Miller DW, Lynch JA, et al.
Leukemia. 2011 Jun 7. [Epub ahead of print]

Identification of a gene variant in the master regulator of lipid metabolism SREBP-1 in a family with a novel form of severe combined hypolipidemia.
Kotzka J, Knebel B, Janssen OE, et al.
Atherosclerosis. 2011 May 18. [Epub ahead of print]

Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.
Tsurusaki Y, Okamoto N, Suzuki Y, et al.
Clin Genet. 2011 Jun 3. [Epub ahead of print]

The Scan

Genome Sequences Reveal Range Mutations in Induced Pluripotent Stem Cells

Researchers in Nature Genetics detect somatic mutation variation across iPSCs generated from blood or skin fibroblast cell sources, along with selection for BCOR gene mutations.

Researchers Reprogram Plant Roots With Synthetic Genetic Circuit Strategy

Root gene expression was altered with the help of genetic circuits built around a series of synthetic transcriptional regulators in the Nicotiana benthamiana plant in a Science paper.

Infectious Disease Tracking Study Compares Genome Sequencing Approaches

Researchers in BMC Genomics see advantages for capture-based Illumina sequencing and amplicon-based sequencing on the Nanopore instrument, depending on the situation or samples available.

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.