Exploring all aspects of genome-scale analysis, functional genomics, epigenomics, proteomics and transcriptomics, including novel methods and techniques, BMC Genomics is an open access peer-reviewed journal with a large readership and a highly experienced Editorial Board. This journal is part of the BMC series, a research community-focused collection publishing scientifically valid studies based on community-agreed standards of questioning, methods and analysis.
BMC Genomics
Description
Identifiers
e-ISSN | 1471-2164 |
Publisher
BioMed Central
Additional information
Data set: Springer
Articles
BMC Genomics > 2019 > 20 > 8 > 1-8
Background With the continuing decrease in cost of whole genome sequencing (WGS), we have already approached the point of inflection where WGS testing has become economically feasible, facilitating broader access to the benefits that are helping to define WGS as the new diagnostic standard. WGS provides unique opportunities for detection of structural variants; however, such analyses, despite being...
BMC Genomics > 2019 > 20 > 8 > 1-12
Background By definition, effect of synonymous single-nucleotide variants (SNVs) on protein folding and function are neutral, as they alter the codon and not the encoded amino acid. Recent examples indicate tissue-specific and transfer RNA (tRNA)-dependent effects of some genetic variations arguing against neutrality of synonymous SNVs for protein biogenesis. Results We performed systematic analysis...
BMC Genomics > 2019 > 20 > 8 > 1-3
Yana Bromberg, Emidio Capriotti and Hannah Carter contributed equally to this work.