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Last Week's Clinical Sequencing Papers of Note: Aug 17, 2011


Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Sloan JL, Johnston JJ, Manoli I, et al.
Nat Genet. 2011 Aug 14. [Epub ahead of print]

Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Baets J, Deconinck T, De Vriendt E, et al.
Brain. 2011 Aug 11. [Epub ahead of print]

Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs.
Ionita-Laza I, Ottman R.
Genetics. 2011 Aug 11. [Epub ahead of print]

Application of next-generation sequencing technology to profile the circulating microRNAs in the serum of preeclampsia versus normal pregnant women.
Yang Q, Lu J, Wang S, Li H, Ge Q, Lu Z.
Clin Chim Acta. 2011 Aug 5. [Epub ahead of print]

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.
Onoufriadis A, Simpson MA, Pink AE, et al.
Am J Hum Genet. 2011 Aug 10. [Epub ahead of print]

Annotating individual human genomes.
Torkamani A, Scott-Van Zeeland AA, Topol EJ, Schork NJ.
Genomics. 2011 Aug 2. [Epub ahead of print]

Focused evolution of HIV-1 neutralizing antibodies revealed by structures and deep sequencing.
Wu X, Zhou T, Zhu J, et al.
Science. 2011 Aug 11. [Epub ahead of print]

Exome sequencing reveals a homozygous SYT 14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Doi H, Yoshida K, Yasuda T, et al.
Am J Hum Genet. 2011 Aug 12;89(2):320-7.

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
Ozgül RK, Siemiatkowska AM, Yücel D, et al.
Am J Hum Genet. 2011 Aug 12;89(2):253-264.

Hybrid selection for sequencing pathogen genomes from clinical samples.
Melnikov A, Galinsky K, Rogov P, et al.
Genome Biol. 2011 Aug 11;12(8):R73.

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
Murdock DR, Clark GD, Bainbridge MN, et al.
Am J Med Genet A. 2011 Aug 10. [Epub ahead of print]

Switching between raltegravir resistance pathways analyzed by deep sequencing.
Mukherjee R, Jensen ST, Male F, et al.
AIDS. 2011 Aug 9. [Epub ahead of print]

Dates of HIV infection can be estimated for seroprevalent patients by coalescent analysis of serial next-generation sequencing data.
Poon AF, McGovern RA, Mo T, et al.
AIDS. 2011 Aug 9. [Epub ahead of print]

Mitochondrial DNA mutations in respiratory complex-I in never-smoker lung cancer patients contribute to lung cancer progression and associated with EGFR gene mutation.
Dasgupta S, Soudry E, Mukhopadhyay N, et al.
J Cell Physiol. 2011 Aug 9. [Epub ahead of print]

Long term transcriptional reactivation of epigenetically silenced genes in colorectal cancer cells requires DNA hypomethylation and histone acetylation.
Mossman D, Scott RJ.
PLoS One. 2011;6(8):e23127.

Culture enriched molecular profiling of the cystic fibrosis airway microbiome.
Sibley CD, Grinwis ME, Field TR, et al.
PLoS One. 2011;6(7):e22702.

Detection of mitochondrial DNA alterations in urine from urothelial cell carcinoma patients.
Dasgupta S, Shao C, Keane TE, et al.
Int J Cancer. 2011 Aug 8. [Epub ahead of print]

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.
Tucker BA, Scheetz TE, Mullins RF, et al.
Proc Natl Acad Sci U S A. 2011 Aug 8. [Epub ahead of print]

Complete genome and comparative analysis of Streptococcus gallolyticus subsp. gallolyticus, an emerging pathogen of infective endocarditis.
Hinse D, Vollmer T, Ruckert C, et al.
BMC Genomics. 2011 Aug 8;12(1):400.

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.