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In Print: Last Week's Clinical Sequencing Papers of Note: Oct 16, 2013


Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA, Fang H, Rynearson S, Robison R, et al.
PeerJ. 2013 Oct 3;1:e177.

Comprehensive analysis of human endogenous retrovirus group HERV-W locus transcription in multiple sclerosis brain lesions by high throughput amplicon sequencing.
Schmitt K, Richter C, Backes C, Meese E, et al.
J Virol. 2013 Oct 9. [Epub ahead of print]

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, et al.
Hum Mutat. 2013 Oct 1. [Epub ahead of print]

Comparison of multilocus variable number tandem repeat analysis and whole genome sequencing for investigation of Clostridium difficile transmission.
Eyre DW, Fawley WN, Best EL, Griffiths D, et al.
J Clin Microbiol. 2013 Oct 9. [Epub ahead of print]

Molecular diagnosis of Actinomadura madurae infection by 16S rRNA deep sequencing.
Salipante SJ, Sengupta DJ, Hoogestraat DR, Cummings LA, et al.
J Clin Microbiol. 2013 Oct 9. [Epub ahead of print]

De novo identification of VRC01 class HIV-1-neutralizing antibodies by next-generation sequencing of B-cell transcripts.
Zhu J, Wu X, Zhang B, McKee K, et al.
Proc Natl Acad Sci U S A. 2013 Oct 8. [Epub ahead of print]

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: West syndrome evolving to Lennox-Gastaut syndrome.
Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, et al.
Hum Mutat. 2013 Sep 18. [Epub ahead of print]

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Chauveau C, Bonnemann CG, Julien C, Kho AL, et al.
Hum Mol Genet. 2013 Oct 8. [Epub ahead of print]

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.
Brownstein Z, Abu-Rayyan A, Karfunkel-Doron D, Sirigu S, et al.
Eur J Hum Genet. 2013 Oct 9. [Epub ahead of print]

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.
Zhao H, Race V, Matthijs G, De Jonghe P, et al.
Eur J Hum Genet. 2013 Oct 9. [Epub ahead of print]

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.
Vergult S, Van Binsbergen E, Sante T, Nowak S, Vanakker O, et al.
Eur J Hum Genet. 2013 Oct 9. [Epub ahead of print]

DREAMing of a patent-free human genome for clinical sequencing.
McKernan KJ, Spangler J, Helbert Y, Zhang L, Tadigotla V.
Nat Biotechnol. 2013 Oct 8;31(10):884-887.

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.
Jia X, Zhang F, Bai J, Gao L, et al.
BMC Med Genet. 2013 Oct 8;14(1):107.

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.
van Meel E, Wegner DJ, Cliften P, Willing MC, et al.
BMC Med Genet. 2013 Oct 8;14(1):106.

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.
Fahiminiya S, Almuriekhi M, Nawaz Z, Staffa A, et al.
Clin Genet. 2013 Sep 14. [Epub ahead of print]

Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.
Faruq M, Narang A, Kumari R, Pandey R, et al.
Clin Genet. 2013 Sep 16. [Epub ahead of print]

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromocytomas and paragangliomas.
McInerney-Leo AM, Marshall MS, Gardiner B, Benn DE, et al.
Clin Endocrinol. 2013 Sep 19. [Epub ahead of print]

Communication of clinically useful next-generation sequencing results to at-risk relatives of deceased research participants: toward active disclosure?
Battistuzzi L, Ciliberti R, Bruno W, Turchetti D, et al.
J Clin Oncol. 2013 Oct 7. [Epub ahead of print]

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.
Pitceathly RD, Taanman JW, Rahman S, Meunier B, et al.
JAMA Neurol. 2013 Oct 7. [Epub ahead of print]

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
Imagawa E, Osaka H, Yamashita A, Shiina M, et al.
Hum Genet. 2013 Oct 8. [Epub ahead of print]

The Scan

Germline-Targeting HIV Vaccine Shows Promise in Phase I Trial

A National Institutes of Health-led team reports in Science that a broadly neutralizing antibody HIV vaccine induced bnAb precursors in 97 percent of those given the vaccine.

Study Uncovers Genetic Mutation in Childhood Glaucoma

A study in the Journal of Clinical Investigation ties a heterozygous missense variant in thrombospondin 1 to childhood glaucoma.

Gene Co-Expression Database for Humans, Model Organisms Gets Update

GeneFriends has been updated to include gene and transcript co-expression networks based on RNA-seq data from 46,475 human and 34,322 mouse samples, a new paper in Nucleic Acids Research says.

New Study Investigates Genomics of Fanconi Anemia Repair Pathway in Cancer

A Rockefeller University team reports in Nature that FA repair deficiency leads to structural variants that can contribute to genomic instability.