BMC Medical Genomics

Long-read sequencing technologies for medical diagnostics

Guest Edited by Laia Bassaganyas

Mechanistic insight into health and disease using spatial transcriptomics

Guest Edited by Zixuan Cang

Genomics of underrepresented populations

Guest Edited by Sally N. Adebamowo, Hoh Boon-Peng, Mohit Divakar, and Kumarasamy Thangaraj

Multi-omics in metabolic diseases

Guest Edited by Isabella Zanella       
 

Genomics of cardiovascular diseases

Guest Edited by Zhe Wang and Chen Yao 

Antimicrobial resistance (AMR)

Guest Edited by Zhi Ruan

Review: Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations              

Review: Whole genome sequencing in clinical practice

Transcriptomic analysis delineates preterm prelabor rupture of membranes from preterm labor in preterm fetal membranes

Short reads-based characterization of pathotype diversity and drug resistance among Escherichia coli isolated from patients attending regional referral hospitals in Tanzania

A systematic analysis of deep learning in genomics and histopathology for precision oncology

A brief comparison of polygenic risk scores and Mendelian randomisation

Mendelian randomisation and polygenic risk score analysis have become increasingly popular in the last decade due to the advent of large-scale genome-wide association studies. Each approach has valuable applications, some of which are overlapping, yet there are important differences which we describe here.