Skip to main content
Premium Trial:

Request an Annual Quote

In Print: Last Week's Clinical Sequencing Papers of Note: May 23, 2012


Gene expression profiling of liver cancer stem cells by RNA-sequencing.
Ho DW, Yang ZF, Yi K, Lam CT, et al.
PLoS One. 2012;7(5):e37159.

Transcriptome analysis using next generation sequencing reveals molecular signatures of diabetic retinopathy and efficacy of candidate drugs.
Kandpal RP, Rajasimha HK, Brooks MJ, Nellissery J, et al.
Mol Vis. 2012;18:1123-1146.

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people.
Nelson MR, Wegmann D, Ehm MG, Kessner D, et al.
Science. 2012 May 17. [Epub ahead of print]

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Tennessen JA, Bigham AW, O'Connor TD, Fu W, et al.
Science. 2012 May 17. [Epub ahead of print]

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing.
Wu J, Shen E, Shi D, Sun Z, Cai T .
Genet Med. 2012 May 17. [Epub ahead of print]

Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient.
Heyn H, Vidal E, Sayols S, Sanchez-Mut JV, et al.
Epigenetics. 2012 Jun 1;7(6).

High-throughput sequencing detects minimal residual disease in acute T lymphoblastic leukemia.
Wu D, Sherwood A, Fromm JR, Winter SS, et al.
Sci Transl Med. 2012 May 16;4(134):134ra63.

Somatic STAT3 mutations in large granular lymphocytic leukemia.
Koskela HL, Eldfors S, Ellonen P, van Adrichem AJ, et al.
N Engl J Med. 2012 May 17;366(20):1905-13.

Genomic sequencing and comparative analysis of Epstein-Barr virus genome isolated from primary nasopharyngeal carcinoma biopsy.
Kwok H, Tong AH, Lin CH, Lok S, et al.
PLoS One. 2012;7(5):e36939.

High-throughput, high-fidelity HLA genotyping with deep sequencing.
Wang C, Krishnakumar S, Wilhelmy J, Babrzadeh F, et al.
Proc Natl Acad Sci U S A. 2012 May 15. [Epub ahead of print]

Deep sequencing unearths NumtS under LHON-associated false heteroplasmic mitochondrial DNA variants.
Petruzzella V, Carrozzo R, Calabrese C, Dell'aglio R, et al.
Hum Mol Genet. 2012 May 15. [Epub ahead of print]

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L
Orphanet J Rare Dis. 2012 May 15;7(1):27.

Incidental medical information in whole-exome sequencing.
Solomon BD, Hadley DW, Pineda-Alvarez DE, et al.
Pediatrics. 2012 May 14. [Epub ahead of print]

DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations.
Canick JA, Kloza EM, Lambert-Messerlian GM, Haddow JE, et al.
Prenat Diagn. 2012 May 14:1-5.

High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing.
Wagle N, Berger MF, Davis MJ, Blumenstiel B, et al.
Cancer Discov. 2012 Jan;2(1):82-93.

Molecular ontogeny of donor-derived follicular lymphomas occurring after hematopoietic cell transplantation.
Weigert O, Kopp N, Lane AA, Yoda A, et al.
Cancer Discov. 2012 Jan;2(1):47-55.

ATM mutations in patients with hereditary pancreatic cancer.
Roberts NJ, Jiao Y, Yu J, Kopelovich L, et al.
Cancer Discov. 2012 Jan;2(1):41-46.

Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes.
Ramirez AH, Shaffer CM, Delaney JT, Sexton DP, et al.
Pharmacogenomics J. 2012 May 15. [Epub ahead of print]

The Scan

US Booster Eligibility Decision

The US CDC director recommends that people at high risk of developing COVID-19 due to their jobs also be eligible for COVID-19 boosters, in addition to those 65 years old and older or with underlying medical conditions.

Arizona Bill Before Judge

The Arizona Daily Star reports that a judge is weighing whether a new Arizona law restricting abortion due to genetic conditions is a ban or a restriction.

Additional Genes

Wales is rolling out new genetic testing service for cancer patients, according to BBC News.

Science Papers Examine State of Human Genomic Research, Single-Cell Protein Quantification

In Science this week: a number of editorials and policy reports discuss advances in human genomic research, and more.