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Last Week's Clinical Sequencing Papers of Note: Mar 5, 2014


Traditional roles in a non-traditional setting: genetic counseling in precision oncology.
Everett JN, Gustafson SL, Raymond VM.
J Genet Couns. 2014 Mar 1. [Epub ahead of print]

Real-time investigation of a Legionella pneumophila outbreak using whole genome sequencing.
Graham RM, Doyle CJ, Jennison AV.
Epidemiol Infect. 2014 Feb 27:1-5.

The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.
Patel ZH, Kottyan LC, Lazaro S, Williams MS, et al.
Front Genet. 2014 Feb 12;5:16.

Evaluation of real-time WGS for routine typing, surveillance and outbreak detection of verotoxigenic Escherichia coli.
Joensen KG, Scheutz F, Lund O, Hasman H, et al.
J Clin Microbiol. 2014 Feb 26. [Epub ahead of print]

Co-infection of Fusobacterium nucleatum and Actinomyces israelii in mastoiditis diagnosed by next-generation DNA sequencing.
Salipante SJ, Hoogestraat DR, Abbott AN, Sengupta DJ, et al.
J Clin Microbiol. 2014 Feb 26. [Epub ahead of print]

An assessment of time involved in pre-test case review and counseling for a whole genome sequencing clinical research program.
Williams JL, Faucett WA, Smith-Packard B, Wagner M, Williams MS.
J Genet Couns. 2014 Feb 27. [Epub ahead of print]

High-throughput detection of clinically relevant mutations in archived tumor samples by multiplexed PCR and next generation sequencing.
Bourgon R, Lu S, Yan Y, Lackner MR, et al.
Clin Cancer Res. 2014 Feb 26. [Epub ahead of print]

DNA sequencing versus standard prenatal aneuploidy screening.
Bianchi DW, Parker RL, Wentworth J, Madankumar R, et al.
N Engl J Med. 2014 Feb 27;370(9):799-808.

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
Beuschlein F, Fassnacht M, Assié G, Calebiro D, et al.
N Engl J Med. 2014 Feb 26. [Epub ahead of print]

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
Hedberg C, Niceta M, Fattori F, Lindvall B, et al.
J Neurol. 2014 Feb 26. [Epub ahead of print]

Coffin-Siris syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.
Vals MA, Oiglane-Shlik E, Nõukas M, Shor R, et al.
Eur J Hum Genet. 2014 Feb 26. [Epub ahead of print]

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.
Larti F, Kahrizi K, Musante L, Hu H, et al.
Eur J Hum Genet. 2014 Feb 26. [Epub ahead of print]

High-throughput screening and whole genome sequencing identifies an antimicrobially active inhibitor of Vibrio cholera.
Sergeev G, Roy S, Jarek M, Zapolskii V, et al.
BMC Microbiol. 2014 Feb 26;14(1):49.

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, et al.
Am J Respir Crit Care Med. 2014 Feb 25. [Epub ahead of print]

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, et al.
JAMA Neurol. 2014 Feb 24. [Epub ahead of print]

Profiling plasma microRNA in nasopharyngeal carcinoma with deep sequencing.
Wang HY, Yan LX, Shao Q, Fu S, et al.
Clin Chem. 2014 Feb 21. [Epub ahead of print]

New routes to targeted therapy of intrahepatic cholangiocarcinomas revealed by next-generation sequencing.
Ross JS, Wang K, Gay L, Al-Rohil R, et al.
Oncologist. 2014 Feb 21. [Epub ahead of print]

ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia.
Sheerin UM, Schneider SA, Carr L, Deuschl G, et al.
Neurology. 2014 Feb 21. [Epub ahead of print]

Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug induced long QT syndrome.
Weeke P, Mosley JD, Hanna D, Delaney JT, et al.
J Am Coll Cardiol. 2014 Feb 7. [Epub ahead of print]

Exome-based mapping and variant prioritization for inherited Mendelian disorders.
Koboldt DC, Larson DE, Sullivan LS, Bowne SJ, et al.
Am J Hum Genet. 2014 Feb 19. [Epub ahead of print]

Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing.
Yagi R, Miyamoto R, Morino H, Izumi Y, et al.
Neurobiol Aging. 2014 Jan 25. [Epub ahead of print]

The Scan

Interfering With Invasive Mussels

The Chicago Tribune reports that researchers are studying whether RNA interference- or CRISPR-based approaches can combat invasive freshwater mussels.

Participation Analysis

A new study finds that women tend to participate less at scientific meetings but that some changes can lead to increased involvement, the Guardian reports.

Right Whales' Decline

A research study plans to use genetic analysis to gain insight into population decline among North American right whales, according to CBC.

Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map

In Science this week: pair of mutations in one gene uncovered in brothers with short stature and immunodeficiency, and more.