Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification

M Dapas, A Dunaif - Endocrine reviews, 2022 - academic.oup.com
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …

Big data and machine learning algorithms for health-care delivery

KY Ngiam, W Khor - The Lancet Oncology, 2019 - thelancet.com
Analysis of big data by machine learning offers considerable advantages for assimilation
and evaluation of large amounts of complex health-care data. However, to effectively use …

100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report

100,000 Genomes Project Pilot … - New England Journal of …, 2021 - Mass Medical Soc
Abstract Background The UK 100,000 Genomes Project is in the process of investigating the
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …

Swarm learning for decentralized and confidential clinical machine learning

S Warnat-Herresthal, H Schultze, KL Shastry… - Nature, 2021 - nature.com
Fast and reliable detection of patients with severe and heterogeneous illnesses is a major
goal of precision medicine,. Patients with leukaemia can be identified using machine …

The National COVID Cohort Collaborative (N3C): rationale, design, infrastructure, and deployment

MA Haendel, CG Chute, TD Bennett… - Journal of the …, 2021 - academic.oup.com
Abstract Objective Coronavirus disease 2019 (COVID-19) poses societal challenges that
require expeditious data and knowledge sharing. Though organizational clinical data are …

GA4GH: International policies and standards for data sharing across genomic research and healthcare

HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz… - Cell genomics, 2021 - cell.com
Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …

Characterizing long COVID: deep phenotype of a complex condition

RR Deer, MA Rock, N Vasilevsky, L Carmody… - …, 2021 - thelancet.com
Background Numerous publications describe the clinical manifestations of post-acute
sequelae of SARS-CoV-2 (PASC or" long COVID"), but they are difficult to integrate because …

Strategic vision for improving human health at The Forefront of Genomics

ED Green, C Gunter, LG Biesecker, V Di Francesco… - Nature, 2020 - nature.com
Starting with the launch of the Human Genome Project three decades ago, and continuing
after its completion in 2003, genomics has progressively come to have a central and …

How many rare diseases are there?

M Haendel, N Vasilevsky, D Unni, C Bologa… - Nature reviews drug …, 2020 - nature.com
A lack of robust knowledge of the number of rare diseases and the number of people
affected by them limits the development of approaches to ameliorate the substantial …

Understanding pathways to death in patients with COVID-19

JL Vincent, FS Taccone - The Lancet Respiratory Medicine, 2020 - thelancet.com
Since the first cases of coronavirus disease 2019 (COVID-19), caused by severe acute
respiratory syndrome coronavirus 2 (SARS-CoV-2), were identified in China in December …