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Clinical Sequencing Papers of Note: Apr 26, 2011


A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M.
BMC Med Genet. 2011 Apr 22;12(1):56.

Analysis of HIV-1 expression level and sense of transcription by high-throughput sequencing of the infected cell.
Lefebvre G, Desfarges S, Uyttebroeck F, et al.
J Virol. 2011 Apr 20.

SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.
Pantaleo MA, Astolfi A, Indio V, et al.
J Natl Cancer Inst. 2011 Apr 19.

Use of whole-genome sequencing to diagnose a cryptic fusion oncogene.
Welch JS, Westervelt P, Ding L, et al.
JAMA. 2011 Apr 20;305(15):1577-1584.

Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.
Link DC, Schuettpelz LG, Shen D, et al.
JAMA. 2011 Apr 20;305(15):1568-1576.

The Scan

Study Links Genetic Risk for ADHD With Alzheimer's Disease

A higher polygenic risk score for attention-deficit/hyperactivity disorder is also linked to cognitive decline and Alzheimer's disease, a new study in Molecular Psychiatry finds.

Study Offers Insights Into Role of Structural Variants in Cancer

A new study in Nature using cell lines shows that structural variants can enable oncogene activation.

Computer Model Uses Genetics, Health Data to Predict Mental Disorders

A new model in JAMA Psychiatry finds combining genetic and health record data can predict a mental disorder diagnosis before one is made clinically.

Study Tracks Off-Target Gene Edits Linked to Epigenetic Features

Using machine learning, researchers characterize in BMC Genomics the potential off-target effects of 19 computed or experimentally determined epigenetic features during CRISPR-Cas9 editing.