Skip to main content
Premium Trial:

Request an Annual Quote

In Print: Last Week's Clinical Sequencing Papers of Note: Jun 13, 2012


Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, et al.
Nat Genet. 2012 Jun 10. [Epub ahead of print]

BAP1 loss defines a new class of renal cell carcinoma.
Peña-Llopis S, Vega-Rubín-de-Celis S, Liao A, Leng N, et al.
Nat Genet. 2012 Jun 10. [Epub ahead of print]

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
Krawitz PM, Murakami Y, Hecht J, Krüger U, et al.
Am J Hum Genet. 2012 Jun 6. [Epub ahead of print]

Family-based association studies for next-generation sequencing.
Zhu Y, Xiong M.
Am J Hum Genet. 2012 Jun 8;90(6):1028-45.

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice - A study of 680 patients.
Abicht A, Dusl M, Gallenmüller C, Guergueltcheva V, et al.
Hum Mutat. 2012 Jun 7. [Epub ahead of print]

Two-stage extreme phenotype sequencing design for discovering and testing common and rare genetic variants: efficiency and power.
Kang G, Lin D, Hakonarson H, Chen J.
Hum Hered. 2012 Jun 7;73(3):139-147.

High accuracy mutation detection in leukemia on a selected panel of cancer genes.
Kalender Atak Z, De Keersmaecker K, Gianfelici V, Geerdens E, et al.
PLoS One. 2012;7(6):e38463.

New mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing.
Doménech E, Gómez-López G, Gzlez-Peña D, López M, et al.
PLoS One. 2012;7(6):e38158.

Deep sequencing of the oral microbiome reveals signatures of periodontal disease.
Liu B, Faller LL, Klitgord N, Mazumdar V, et al.
PLoS One. 2012;7(6):e37919.

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.
Pierson TM, Adams DA, Markello T, Golas G, et al.
Neurology. 2012 Jun 6. [Epub ahead of print]

Exome sequencing in a SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.
Sailer A, Scholz SW, Gibbs JR, Tucci A, et al.
Neurology. 2012 Jun 6. [Epub ahead of print]

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.
Landouré G, Sullivan JM, Johnson JO, Munns CH, et al.
Neurology. 2012 Jun 6. [Epub ahead of print]

A pilot study of rapid benchtop sequencing of Staphylococcus aureus and Clostridium difficile for outbreak detection and surveillance.
Eyre DW, Golubchik T, Gordon NC, Bowden R, et al.
BMJ Open. 2012 Jun 6;2(3). pii: e001124.

Two adaptive weighting methods to test for rare variant associations in family-based designs.
Fang S, Sha Q, Zhang S.
Genet Epidemiol. 2012 Jun 1. [Epub ahead of print]

Noninvasive whole-genome sequencing of a human fetus.
Kitzman JO, Snyder MW, Ventura M, Lewis AP, et al.
Sci Transl Med. 2012 Jun 6;4(137):137ra76.

Next generation RNA-sequencing in prognostic subsets of chronic lymphocytic leukemia.
Mansouri L, Gunnarsson R, Sutton LA, Ameur A, et al.
Am J Hematol. 2012 Apr 4. [Epub ahead of print]

Identification of seven serum microRNAs from a genome-wide serum miRNA expression profile as potential noninvasive biomarkers for malignant astrocytomas.
Yang C, Wang C, Chen X, Chen S, et al.
Int J Cancer. 2012 Jun 2. [Epub ahead of print]

Detection of identity by descent using next-generation whole genome sequencing data.
Su SY, Kasberger J, Baranzini S, Byerley W, et al.
BMC Bioinformatics. 2012 Jun 6;13(1):121.

Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability.
Hamdan FF, Daoud H, Patry L, Dionne-Laporte A, et al.
Clin Genet. 2012 Jun 4. [Epub ahead of print]

Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA.
Liao GJ, Chan KC, Jiang P, Sun H, et al.
PLoS One. 2012;7(5):e38154.

Ultra-deep pyrosequencing detects conserved genomic sites and quantifies linkage of drug-resistant amino acid changes in the hepatitis B virus genome.
Rodriguez-Frías F, Tabernero D, Quer J, Esteban JI, et al.
PLoS One. 2012;7(5):e37874.

The Scan

Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Using interviews, researchers in the European Journal of Human Genetics qualitatively assess individuals' motivations for, and experiences with, direct-to-consumer polygenic risk score testing.

EHR Quality Improvement Study Detects Demographic-Related Deficiencies in Cancer Family History Data

In a retrospective analysis in JAMA Network Open, researchers find that sex, ethnicity, language, and other features coincide with the quality of cancer family history information in a patient's record.

Inflammatory Bowel Disease Linked to Gut Microbiome Community Structure Gradient in Meta-Analysis

Bringing together data from prior studies, researchers in Genome Biology track down microbial taxa and a population structure gradient with ties to ulcerative colitis or Crohn's disease.

Ancient Greek Army Ancestry Highlights Mercenary Role in Historical Migrations

By profiling genomic patterns in 5th century samples from in and around Himera, researchers saw diverse ancestry in Greek army representatives in the region, as they report in PNAS.