Skip to main content
Premium Trial:

Request an Annual Quote

In Print: Last Week's Clinical Sequencing Papers of Note: Feb 8, 2012


Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.
Sorte H, Mørkrid L, Rødningen O, Kulseth MA, et al.
Eur J Med Genet. 2012 Jan 16. [Epub ahead of print]

Ultra-deep sequencing of HIV-1 reverse transcriptase before start of an NNRTI-based regimen in treatment-naive patients.
Messiaen P, Verhofstede C, Vandenbroucke I, Dinakis S, et al.
Virology. 2012 Feb 3. [Epub ahead of print]

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Lines MA, Huang L, Schwartzentruber J, Douglas SL, et al.
Am J Hum Genet. 2012 Feb 1. [Epub ahead of print]

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
Jones MA, Ng BG, Bhide S, Chin E, et al.
Am J Hum Genet. 2012 Feb 1. [Epub ahead of print]

RAD51 haploinsufficiency causes congenital mirror movements in humans.
Depienne C, Bouteiller D, Méneret A, Billot S, et al.
Am J Hum Genet. 2012 Feb 1. [Epub ahead of print]

Diagnosis of mitochondrial disorders applying massive pyrosequencing.
Kauffman MA, González-Morón D, Consalvo D, Westergaard G, et al.
Mol Biol Rep. 2012 Feb 3. [Epub ahead of print]

VAR-MD: A tool to analyze whole exome/genome variants in small human pedigrees with Mendelian inheritance.
Sincan M, Simeonov D, Adams D, Markello TC, et al.
Hum Mutat. 2012 Jan 30. [Epub ahead of print]

Whole genome sequences of a male and female supercentenarian, ages greater than 114 years.
Sebastiani P, Riva A, Montano M, Pham P, et al.
Front Genet. 2011;2:90.

Somatic mutations in the notch, NF-KB, PIK3CA, and hedgehog pathways in human breast cancers.
Jiao X, Wood LD, Lindman M, Jones S, et al.
Genes Chromosomes Cancer. 2012 Feb 3. [Epub ahead of print]

Identification of hepatitis C virus transmission using a next generation sequencing approach.
Escobar-Gutiérrez A, Vazquez-Pichardo M, Cruz-Rivera M, Rivera-Osorio P, et al.
J Clin Microbiol. 2012 Feb 1. [Epub ahead of print]

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing.
Koboldt DC, Zhang Q, Larson DE, Shen D, et al.
Genome Res. 2012 Feb 2. [Epub ahead of print]

Refining noninvasive prenatal diagnosis with single-molecule next-generation sequencing.
Avent ND.
Clin Chem. 2012 Feb 2. [Epub ahead of print]

Multi-locus HLA class I and II allele and haplotype associations with follicular lymphoma.
Skibola CF, Akers NK, Conde L, Ladner M, et al.
Tissue Antigens. 2012 Feb 2. [Epub ahead of print]

Microfluidic amplification as a tool for massive parallel sequencing of familial hypercholesterolemia genes.
Hollants S, Redeker EJ, Matthijs G.
Clin Chem. 2012 Jan 31. [Epub ahead of print]

Inflamed target tissue provides a specific niche for highly expanded T-cell clones in early human autoimmune disease.
Klarenbeek PL, de Hair MJ, Doorenspleet ME, van Schaik BD, et al.
Ann Rheum Dis. 2012 Jan 31. [Epub ahead of print]

Integrated genome and transcriptome sequencing identifies a novel form of hybrid and aggressive prostate cancer.
Wu C, Wyatt AW, Lapuk AV, McPherson A, et al.
J Pathol. 2012 Jan 4. [Epub ahead of print]

Detecting false positive signals in exome sequencing.
Fuentes Fajardo KV, Adams D, Nisc Comparative Sequencing Program, et al.
Hum Mutat. 2012 Jan 31. [Epub ahead of print]

Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence.
Cejková D, Zobaníková M, Chen L, Pospíšilová P, et al.
PLoS Negl Trop Dis. 2012 Jan;6(1):e1471.

The viral and cellular microRNA targetome in lymphoblastoid cell lines.
Skalsky RL, Corcoran DL, Gottwein E, Frank CL, et al.
PLoS Pathog. 2012 Jan;8(1):e1002484.

Analysis of DNA sequence variants detected by high throughput sequencing.
Adams DR, Sincan M, Fajardo KF, for the NISC Comparative Sequencing Program et al.
Hum Mutat. 2012 Jan 30. [Epub ahead of print]

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
Bauer P, Leshinsky-Silver E, Blumkin L, Schlipf N, et al.
Neurogenetics. 2012 Jan 31. [Epub ahead of print]

Improving bioinformatic pipelines for exome variant calling.
Ji HP.
Genome Med. 2012 Jan 30;4(1):7.

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.
Cabral RM, Kurban M, Wajid M, Shimomura Y, et al.
Genomics. 2012 Jan 25. [Epub ahead of print]

The Scan

Shape of Them All

According to BBC News, researchers have developed a protein structure database that includes much of the human proteome.

For Flu and More

The Wall Street Journal reports that several vaccine developers are working on mRNA-based vaccines for influenza.

To Boost Women

China's Ministry of Science and Technology aims to boost the number of female researchers through a new policy, reports the South China Morning Post.

Science Papers Describe Approach to Predict Chemotherapeutic Response, Role of Transcriptional Noise

In Science this week: neural network to predict chemotherapeutic response in cancer patients, and more.