As fall approaches, at BioMed Central we always look forward to attending the American Society of Human Genetics meeting. This is the world’s largest conference for geneticists, which this year takes place in Vancouver. In the spirit of ASHG season, we’ve collated some recent human genetics articles published in BioMed Central journals and relevant posts from our blogs network. If you’re attending ASHG, come and see us at Booth 1109 to talk about all things open access!
BioMed Central at ASHG 2016
Writing for Publication- Panel Discussion
Come along to our panel discussion and networking event, Writing for Publication. Listen to Ripudaman Bains, Senior Editor for Genome Biology share her experiences of what pitfalls to avoid when writing a manuscript and preparing it for submission to the journal. Ripu will also be joined by Denise Waldron, Associate Editor for Nature Reviews life sciences, as well as Orli Bahcall of Nature, and Editor-in-Chief of npj Genomic Medicine, Professor Stephen Scherer.
Event: Writing for Publication - Springer Nature Editors Give Their Feedback (panel discussion and networking event)
Day of Event: Tuesday, October 18, 2016
Time of Event: 7:00 PM - 8:30 PM
Location: Pinnacle Hotel
Room: Harbourfront Ballroom II, 2nd Level
Our selection of articles & blogs
Featured articles
From Genome Biology
- Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine
- KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
- TLE6 mutation causes the earliest known human embryonic lethality
From Genome Medicine
- POGZ truncating alleles cause syndromic intellectual disability
- Medical implications of technical accuracy in genome sequencing
- Assessing the reproducibility of exome copy number variations predictions
From BMC Medical Genomics
- Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views
- Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
- Attitudes to incorporating genomic risk assessments into population screening programs: the importance of purpose, context and deliberation
From BMC Medical Genetics
- Acyl-CoA synthetase long-chain 5 genotype is associated with body composition changes in response to lifestyle interventions in postmenopausal women with overweight and obesity: a genetic association study on cohorts Montréal-Ottawa New Emerging Team, and Complications Associated with Obesity
- Association of BAK1 single nucleotide polymorphism with a risk for dengue hemorrhagic fever
- Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
From Human Genomics
- Major influence of repetitive elements on disease-associated copy number variants (CNVs)
- A review of the new HGNC gene family resource
From Orphanet Journal of Rare Diseases
- First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease
- Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT
From Microbiome
From Clinical Epigenetics
- Epigenetic modulators as therapeutic targets in prostate cancer
- MSP-HTPrimer: a high-throughput primer design tool to improve assay design for DNA methylation analysis in epigenetics#
From BMC Genetics
From BMC Genomics
- A strategy to identify housekeeping genes suitable for analysis in breast cancer diseases
- The human olfactory transcriptome
- Identification of oncogenic driver mutations by genome-wide CRISPR-Cas9 dropout screening
From Hereditas
- Leptin receptor gene polymorphisms and morbid obesity in Mexican patients
- The Trp719Arg polymorphism of the KIF6 gene and coronary heart disease risk: systematic review and meta-analysis
From BioData Mining
From Mobile DNA
- Roles for retrotransposon insertions in human disease
- Identification of polymorphic SVA retrotransposons using a mobile element scanning method for SVA (ME-Scan-SVA)
From Journal of Neurodevelopmental Disorders
- Investigating the effects of copy number variants on reading and language performance
- Effects of sex and DTNBP1 (dysbindin) null gene mutation on the developmental GluN2B-GluN2A switch in the mouse cortex and hippocampus
- Complexities of X chromosome inactivation status in female human induced pluripotent stem cells—a brief review and scientific update for autism research
From Molecular Autism
- Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression
- Quantitative autistic trait measurements index background genetic risk for ASD in Hispanic families
- Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder
Featured blogs
From the On Biology blog
- Quiz: Find out how much you know about DNA: Test your DNA knowledge with this fun quiz
- Raising funds for genetic diseases: Sam Rose discusses research on genetic diseases and where charity funds are being distributed
From the GigaBlog
- Introducing Gigwa: Genotype Investigator for Genome-Wide Analyses: introducing a tool which addresses the problem of the lack of a user-friendly tool providing a graphical interface for filtering large variation datasets
From the BMC Series blog
- Obesity: do children and adults share influential genetic risk factors?: Genetic variation can influence the development of obesity - but is this influence age-dependent?