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In Print: Last Week's Clinical Sequencing Papers of Note: Jan 9, 2013


Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders.
Cui H, Li F, Chen D, Wang G, et al.
Genet Med. 2013 Jan 3. [Epub ahead of print]

Pulmonary Langerhans cell histiocytosis: profiling of multifocal tumors using next-generation sequencing identifies concordant occurrence of BRAF V600E mutations.
Yousem SA, Dacic S, Nikiforov YE, Nikiforova M.
Chest. 2013 Jan 3. [Epub ahead of print]

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Haugarvoll K, Johansson S, Tzoulis C, Haukanes BI, et al.
Orphanet J Rare Dis. 2013 Jan 3;8(1):1.

Bioinactive ACTH causing glucocorticoid deficiency.
Samuels ME, Gallo-Payet N, Pinard S, Hasselmann C, et al.
J Clin Endocrinol Metab. 2013 Jan 4. [Epub ahead of print]

Genetic heterogeneity of diffuse large B-cell lymphoma.
Zhang J, Grubor V, Love CL, Banerjee A, et al.
Proc Natl Acad Sci U S A. 2013 Jan 4. [Epub ahead of print]

Genomic analysis of smooth tubercle bacilli provides insights into ancestry and pathoadaptation of Mycobacterium tuberculosis.
Supply P, Marceau M, Mangenot S, Roche D, et al.
Nat Genet. 2013 Jan 6. [Epub ahead of print]

Deep whole-genome sequencing of 100 Southeast Asian Malays.
Wong LP, Ong RT, Poh WT, Liu X, et al.
Am J Hum Genet. 2012 Dec 31. [Epub ahead of print]

Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges.
Knies K, Schuster B, Ameziane N, Rooimans M, et al.
PLoS One. 2012;7(12):e52648.

Genes contributing to pain sensitivity in the normal population: an exome sequencing study.
Williams FM, Scollen S, Cao D, Memari Y, et al.
PLoS Genet. 2012 Dec;8(12):e1003095.

Evaluation of a bench-top HIV ultra-deep pyrosequencing drug-resistance assay in the clinical laboratory.
Avidor B, Girshengorn S, Matus N, Talio H, et al.
J Clin Microbiol. 2013 Jan 2. [Epub ahead of print]

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, et al.
Hum Mutat. 2012 Dec 21. [Epub ahead of print]

Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
Miyake N, Yano S, Sakai C, Hatakeyama H, et al.
Hum Mutat. 2012 Dec 19. [Epub ahead of print]

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Duarri A, Jezierska J, Fokkens M, Meijer M, et al.
Ann Neurol. 2012 Dec;72(6):870-80.

Mutations in KCND3 cause spinocerebellar ataxia type 22.
Lee YC, Durr A, Majczenko K, Huang YH, et al.
Ann Neurol. 2012 Dec;72(6):859-69.

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Taylor KR, Deluca AP, Eliot Shearer A, Hildebrand MS, et al.
Hum Mutat. 2012 Dec 24. [Epub ahead of print]

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
Belaya K, Finlayson S, Cossins J, Liu WW, et al.
Ann N Y Acad Sci. 2012 Dec;1275(1):29-35.

Deep sequencing of the hepatitis B virus in hepatocellular carcinoma patients reveals enriched integration events, structural alterations and sequence variations.
Toh ST, Jin Y, Liu L, Wang J, et al.
Carcinogenesis. 2012 Dec 30. [Epub ahead of print]

The Scan

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.

Researchers Retrace Key Mutations in Reassorted H1N1 Swine Flu Virus With Avian-Like Features

Mutations in the acidic polymerase-coding gene boost the pathogenicity and transmissibility of Eurasian avian-like H1N1 swine influenza viruses, a PNAS paper finds.

Genome Sequences Reveal Evolutionary History of South America's Canids

An analysis in PNAS of South American canid species' genomes offers a look at their evolutionary history, as well as their relationships and adaptations.

Lung Cancer Response to Checkpoint Inhibitors Reflected in Circulating Tumor DNA

In non-small cell lung cancer patients, researchers find in JCO Precision Oncology that survival benefits after immune checkpoint blockade coincide with a dip in ctDNA levels.