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Clinical Sequencing Papers of Note: Apr 19, 2011


Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
Erlich Y, Edvardson S, Hodges E, et al.
Genome Res. 2011 Apr 12. [Epub ahead of print]

The airway microbiome in cystic fibrosis and implications for treatment.
Zemanick ET, Sagel SD, Harris JK.
Curr Opin Pediatr. 2011 Apr 13. [Epub ahead of print]

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
Maydan G, Noyman I, Har-Zahav A, et al.
J Med Genet. 2011 Apr 14. [Epub ahead of print]

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Hopp K, Heyer CM, Hommerding CJ, et al.
Hum Mol Genet. 2011 Apr 14. [Epub ahead of print]

Molecular characterization of lapinized classical swine fever vaccine strain by full-length genome sequencing and analysis.
Gupta PK, Saini M, Dahiya SS, Patel CL, Sonwane AA, Rai DV, Pandey KD.
Anim Biotechnol. 2011 Apr;22(2):111-7.

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: The WASH complex member SWIP.
Ropers F, Derivery E, Hu H, et al.
Hum Mol Genet. 2011 Apr 15. [Epub ahead of print]

The Scan

Unique Germline Variants Found Among Black Prostate Cancer Patients

Through an exome sequencing study appearing in JCO Precision Oncology, researchers have found unique pathogenic or likely pathogenic variants within a cohort of Black prostate cancer patients.

Analysis of Endogenous Parvoviral Elements Found Within Animal Genomes

Researchers at PLOS Biology have examined the coevolution of endogenous parvoviral elements and animal genomes to gain insight into using the viruses as gene therapy vectors.

Saliva Testing Can Reveal Mosaic CNVs Important in Intellectual Disability

An Australian team has compared the yield of chromosomal microarray testing of both blood and saliva samples for syndromic intellectual disability in the European Journal of Human Genetics.

Octopus Brain Complexity Linked to MicroRNA Expansions

Investigators saw microRNA gene expansions coinciding with complex brains when they analyzed certain cephalopod transcriptomes, as they report in Science Advances.