JX Chong, KJ Buckingham, SN Jhangiani… - The American Journal of …, 2015 - cell.com
Discovering the genetic basis of a Mendelian phenotype establishes a causal link between genotype and phenotype, making possible carrier and population screening and direct …
INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes us uniquely human. The development of the brain is a highly complex process, and this …
The importance of gut microbiota in human health and pathophysiology is undisputable. Despite the abundance of metagenomics data, the functional dynamics of gut microbiota in …
The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low statistical power and limited functional data …
MicroRNA targets are often recognized through pairing between the miRNA seed region and complementary sites within target mRNAs, but not all of these canonical sites are …
Methods used to sequence the transcriptome often produce more than 200 million short sequences. We introduce StringTie, a computational method that applies a network flow …
INTRODUCTION Resolving the molecular details of proteome variation in the different tissues and organs of the human body would greatly increase our knowledge of human …
S Nestorowa, FK Hamey, B Pijuan Sala… - Blood, The Journal …, 2016 - ashpublications.org
Maintenance of the blood system requires balanced cell fate decisions by hematopoietic stem and progenitor cells (HSPCs). Because cell fate choices are executed at the individual …
BL Aken, P Achuthan, W Akanni… - Nucleic acids …, 2017 - academic.oup.com
Abstract Ensembl (www. ensembl. org) is a database and genome browser for enabling research on vertebrate genomes. We import, analyse, curate and integrate a diverse …