Rare diseases (RDs) concern a broad range of disorders and can result from various origins. For a long time, the scientific community was unaware of RDs. Impressive progress has already been made for certain RDs; however, due to the lack of sufficient knowledge, many patients are not diagnosed. Nowadays, the advances in high-throughput sequencing technologies such as whole genome sequencing, single-cell and others, have boosted the understanding of RDs. To extract biological meaning using the data generated by these methods, different analysis techniques have been proposed, including machine learning algorithms. These methods have recently proven to be valuable in the medical field. Among such approaches, unsupervised learning methods via n...
SFRH/BD/138647/2018. SFRH/BD/124326/2016.The amount of data collected and managed in (bio)medicine i...
Background Rare diseases (RD) result in a wide variety of clinical presentations, and this creates a...
Rare diseases represent a challenge for physicians because patients are rarely seen, and they can ma...
Rare diseases (RDs) are complicated health conditions that are difficult to be managed at several le...
More than 7,000 rare diseases (RDs) exist worldwide, affecting approximately 350 million people, out...
Rare diseases, although individually rare, collectively affect approximately 350 million people worl...
Abstract Artificial intelligence (AI) utilization in health care has grown over the past few years. ...
The study of rare diseases uses next-generation sequencing (NGS) technology to detect causative muta...
Rare diseases impact the lives of 300 million people in the world. Rapid advances in bioinformatics ...
DNA sequencing has allowed for the discovery of the genetic cause for a considerable number of disea...
DNA sequencing has allowed for the discovery of the genetic cause for a considerable number of disea...
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants ...
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants ...
DNA sequencing has allowed for the discovery of the genetic cause for a considerable number of disea...
JALE has received funds from Instituto de Salud Carlos III (Grant# PI20-1126), CIBERER (Grant# PIT21...
SFRH/BD/138647/2018. SFRH/BD/124326/2016.The amount of data collected and managed in (bio)medicine i...
Background Rare diseases (RD) result in a wide variety of clinical presentations, and this creates a...
Rare diseases represent a challenge for physicians because patients are rarely seen, and they can ma...
Rare diseases (RDs) are complicated health conditions that are difficult to be managed at several le...
More than 7,000 rare diseases (RDs) exist worldwide, affecting approximately 350 million people, out...
Rare diseases, although individually rare, collectively affect approximately 350 million people worl...
Abstract Artificial intelligence (AI) utilization in health care has grown over the past few years. ...
The study of rare diseases uses next-generation sequencing (NGS) technology to detect causative muta...
Rare diseases impact the lives of 300 million people in the world. Rapid advances in bioinformatics ...
DNA sequencing has allowed for the discovery of the genetic cause for a considerable number of disea...
DNA sequencing has allowed for the discovery of the genetic cause for a considerable number of disea...
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants ...
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants ...
DNA sequencing has allowed for the discovery of the genetic cause for a considerable number of disea...
JALE has received funds from Instituto de Salud Carlos III (Grant# PI20-1126), CIBERER (Grant# PIT21...
SFRH/BD/138647/2018. SFRH/BD/124326/2016.The amount of data collected and managed in (bio)medicine i...
Background Rare diseases (RD) result in a wide variety of clinical presentations, and this creates a...
Rare diseases represent a challenge for physicians because patients are rarely seen, and they can ma...