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In Print: Last Week's Clinical Sequencing Papers of Note: Oct 3, 2012


Somatic populations of PGT135-137 HIV-1-neutralizing antibodies identified by 454 pyrosequencing and bioinformatics.
Zhu J, O'Dell S, Ofek G, Pancera M, et al.
Front Microbiol. 2012;3:315.

Characterization of hepatitis B virus mutations in untreated patients co-infected with HIV and HBV based on complete genome sequencing.
Tangkijvanich P, Sa-Nguanmoo P, Avihingsanon A, Ruxrungtham K, et al.
J Med Virol. 2012 Sep 28. [Epub ahead of print]

Estimating genetic effects and quantifying missing heritability explained by identified rare-variant associations.
Liu DJ, Leal SM.
Am J Hum Genet. 2012 Sep 26. [Epub ahead of print]

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
Olbrich H, Schmidts M, Werner C, Onoufriadis A, et al.
Am J Hum Genet. 2012 Sep 26. [Epub ahead of print]

An RMND1 mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Janer A, Antonicka H, Lalonde E, Nishimura T, et al.
Am J Hum Genet. 2012 Sep 25. [Epub ahead of print]

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
Spielmann M, Brancati F, Krawitz PM, Robinson PN, et al.
Am J Hum Genet. 2012 Sep 25. [Epub ahead of print]

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A, Wieczorek D, Graf E, Wieland T, et al.
Lancet. 2012 Sep 26. [Epub ahead of print]

Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder.
Steinberg KM, Ramachandran D, Patel V, Shetty AC, et al.
Mol Autism. 2012 Sep 28;3(1):8.

Progressive dopaminergic cell loss with unilateral-to-bilateral progression in a genetic model of Parkinson disease.
Rousseaux MW, Marcogliese PC, Qu D, Hewitt SJ, et al.
Proc Natl Acad Sci U S A. 2012 Sep 25;109(39):15918-23.

Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.
Mann PC, Cooper ME, Ryckman KK, Comas B, et al.
J Perinatol. 2012 Sep 27. [Epub ahead of print]

Quantitative analysis of the human airway microbial ecology reveals a pervasive signature for cystic fibrosis.
Blainey PC, Milla CE, Cornfield DN, Quake SR.
Sci Transl Med. 2012 Sep 26;4(153):153ra130.

Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome.
Chang VY, Federman N, Martinez-Agosto J, Tatishchev SF, Nelson SF.
Pediatr Blood Cancer. 2012 Sep 26. [Epub ahead of print]

Dysfunction of the intestinal microbiome in inflammatory bowel disease and treatment.
Morgan XC, Tickle TL, Sokol H, Gevers D, et al.
Genome Biol. 2012 Sep 26;13(9):R79.

Mutations in TMEM231 cause Joubert syndrome in French Canadians.
Srour M, Hamdan FF, Schwartzentruber JA, Patry L, et al.
J Med Genet. 2012 Sep 25. [Epub ahead of print]

Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.
Welander J, Larsson C, Bäckdahl M, Hareni N, et al.
Hum Mol Genet. 2012 Sep 24. [Epub ahead of print]

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
Lamperti C, Fang M, Invernizzi F, Liu X, et al.
Mol Genet Metab. 2012 Sep 7. [Epub ahead of print]

Transcriptome and small RNA deep sequencing reveals deregulation of miRNA biogenesis in human glioma.
Moore LM, Kivinen V, Liu Y, Annala M, et al.
J Pathol. 2012 Sep 24. [Epub ahead of print]

Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma.
Gartner J, Davis S, Wei X, Lin JC, et al.
BMC Genomics. 2012 Sep 24;13(1):505.

The Scan

Long COVID-19 Susceptibility Clues Contained in Blood Plasma Proteome

A longitudinal study in eBioMedicine found weeks-long blood plasma proteome shifts after SARS-CoV-2 infection, along with proteomic signatures that appeared to coincide with long Covid risk.

Tibetan Study Finds Adaptive Variant Influencing Skin Pigmentation

With a combination of phenotyping and genetic data, researchers document at PNAS a Tibetan-enriched enhancer variant influencing melanin synthesis and ultraviolet light response.

Domestication Linked to Nervous System Genes in Inbred Mouse Strains

Researchers highlighted more than 300 positively selected genes in domesticated mice, including genes linked to nervous system function or behavior in Genome Biology.

ALS Genetic Testing May Be Informative Across Age Ranges, Study Finds

Researchers in the journal Brain identified clinically actionable variants in a significant subset of older ALS patients, prompting them to point to the potential benefits of broader test use.