Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics

R Pereira, J Oliveira, M Sousa - Journal of clinical medicine, 2020 - mdpi.com
Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …

MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search

N Rappaport, M Twik, I Plaschkes, R Nudel… - Nucleic acids …, 2017 - academic.oup.com
The MalaCards human disease database (http://www. malacards. org/) is an integrated
compendium of annotated diseases mined from 68 data sources. MalaCards has a web card …

The genecards suite

M Safran, N Rosen, M Twik, R BarShir, TI Stein… - Practical guide to life …, 2021 - Springer
The GeneCards® database of human genes was launched in 1997 and has expanded
since then to encompass gene-centric, disease-centric, and pathway-centric entities and …

GeneHancer: genome-wide integration of enhancers and target genes in GeneCards

S Fishilevich, R Nudel, N Rappaport, R Hadar… - Database, 2017 - academic.oup.com
A major challenge in understanding gene regulation is the unequivocal identification of
enhancer elements and uncovering their connections to genes. We present GeneHancer, a …

The GeneCards suite: from gene data mining to disease genome sequence analyses

G Stelzer, N Rosen, I Plaschkes… - Current protocols in …, 2016 - Wiley Online Library
GeneCards, the human gene compendium, enables researchers to effectively navigate and
inter‐relate the wide universe of human genes, diseases, variants, proteins, cells, and …

Advancing personalized medicine through the application of whole exome sequencing and big data analytics

P Suwinski, CK Ong, MHT Ling, YM Poh… - Frontiers in …, 2019 - frontiersin.org
There is a growing attention toward personalized medicine. This is led by a fundamental
shift from the 'one size fits all'paradigm for treatment of patients with conditions or …

Reciprocal interactions between innate immune cells and astrocytes facilitate neuroinflammation and brain metastasis via lipocalin-2

O Adler, Y Zait, N Cohen, R Blazquez, H Doron… - Nature Cancer, 2023 - nature.com
Brain metastasis still encompass very grim prognosis and therefore understanding the
underlying mechanisms is an urgent need toward developing better therapeutic strategies …

[HTML][HTML] GeneCaRNA: a comprehensive gene-centric database of human non-coding RNAs in the GeneCards suite

R Barshir, S Fishilevich, T Iny-Stein, O Zelig… - Journal of molecular …, 2021 - Elsevier
Non-coding RNA (ncRNA) genes assume increasing biological importance, with growing
associations with diseases. Many ncRNA sources are transcript-centric, but for non-coding …

VarAFT: a variant annotation and filtration system for human next generation sequencing data

JP Desvignes, M Bartoli, V Delague… - Nucleic acids …, 2018 - academic.oup.com
With the rapidly developing high-throughput sequencing technologies known as next
generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically …

Insights into the genetic architecture of the human face

JD White, K Indencleef, S Naqvi, RJ Eller, H Hoskens… - Nature …, 2021 - nature.com
The human face is complex and multipartite, and characterization of its genetic architecture
remains challenging. Using a multivariate genome-wide association study meta-analysis of …