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New Products: Genewiz's Cancer Panels; Gene by Gene's DNA DTC; Verinata's Verifi; COSMIC

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Genewiz is now offering Illumina's TruSeq Cancer Panel and Life Technologies' Ion AmpliSeq Cancer Panel on the MiSeq and PGM, respectively. Additionally, the company is offering custom designed cancer panels.


Gene by Gene has launched DNA DTC, a division that will provide genomic services, including next-generation sequencing, directly to consumers for research-use only.

Its services include 80x exome sequencing on the Illumina HiSeq 2000 at an introductory price of $695; 30x whole-genome sequencing on the HiSeq for $5,495, with a minimum required order of three samples; and 2000x mitochondrial sequencing on the MiSeq for $995. The introductory prices expire at the end of the year. Turnaround times are 6 to 8 weeks for the mitochondrial sequencing and 8 to 10 weeks for the exome and whole-genome sequencing service. The company does not provide interpretation or analysis.


Verinata Health has expanded its Verifi test for trisomy 21, 18, and 13 detection, to include common fetal sex chromosome abnormalities — Turner syndrome, Triple X (XXX), Klinefelter syndrome (XXY) and Jacob's syndrome (XYY).


The Wellcome Trust Sanger Institute has released version 62 of COSMIC, the Catalog of Somatic Mutations in Cancer. The latest release includes the full curation of genes H3F3A, BCOR and HIST1H3B, together with RSPO2/3 fusions in colon cancer and NTRK1 fusions in thyroid cancer. Additionally, 1,068 whole genomes are included from recent TCGA releases.

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.