Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
Big data in biomedicine
FF Costa - Drug discovery today, 2014 - Elsevier
Highlights•Big data has affected several sectors including biomedicine, life sciences and
scientific research.•Genetics and genomics information are key enablers for predictive and …
scientific research.•Genetics and genomics information are key enablers for predictive and …
GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals
V Iotchkova, GRS Ritchie, M Geihs, S Morganella… - Nature …, 2019 - nature.com
Loci discovered by genome-wide association studies predominantly map outside protein-
coding genes. The interpretation of the functional consequences of non-coding variants can …
coding genes. The interpretation of the functional consequences of non-coding variants can …
Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
[HTML][HTML] DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects
Copy number variants (CNVs) were the subject of extensive research in the past years. They
are common features of the human genome that play an important role in evolution …
are common features of the human genome that play an important role in evolution …
Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios
Building a population-specific catalogue of single nucleotide variants (SNVs), indels and
structural variants (SVs) with frequencies, termed a national pan-genome, is critical for …
structural variants (SVs) with frequencies, termed a national pan-genome, is critical for …
Predicting functional effects of synonymous variants: a systematic review and perspectives
Z Zeng, Y Bromberg - Frontiers in genetics, 2019 - frontiersin.org
Recent advances in high-throughput experimentation have put the exploration of genome
sequences at the forefront of precision medicine. In an effort to interpret the sequencing …
sequences at the forefront of precision medicine. In an effort to interpret the sequencing …
Genomic newborn screening: public health policy considerations and recommendations
Background The use of genome-wide (whole genome or exome) sequencing for population-
based newborn screening presents an opportunity to detect and treat or prevent many more …
based newborn screening presents an opportunity to detect and treat or prevent many more …
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
Purpose: Medical diagnosis and molecular or biochemical confirmation typically rely on the
knowledge of the clinician. Although this is very difficult in extremely rare diseases, we …
knowledge of the clinician. Although this is very difficult in extremely rare diseases, we …
Novel insights into non‐HLA alloimmunity in kidney transplantation
R Reindl‐Schwaighofer, A Heinzel… - Transplant …, 2020 - Wiley Online Library
Recognition of non‐self structures on donor cells represents the main immunological barrier
in solid organ transplantation. The human leukocyte antigens (HLA) are considered the most …
in solid organ transplantation. The human leukocyte antigens (HLA) are considered the most …