本页收集一些线上的，与医学遗传学的研究和运用等有关的网站。这里只是随心收集，因此并不最求完善，而只是在遇到资源时顺手记下。
| OMIM | ||
| Orphanet | ||
| ClinVar | ||
| ClinGen | ||
| DECIPHER | ||
| MyGene2 | ||
| ICDA | International Common Disease Alliance (ICDA) aims to improve prevention, diagnosis, and treatment of common diseases by accelerating discovery from genetic maps to biological mechanisms to physiology and medicine, to benefit people around the world. | |
| Functional | ENCODE | The goal of ENCODE is to build a comprehensive parts list of functional elements in the human genome, including elements that act at the protein and RNA levels, and regulatory elements that control cells and circumstances in which a gene is active. |
| Roadmap Epigenomics | The NIH Roadmap Epigenomics Mapping Consortium was launched with the goal of producing a public resource of human epigenomic data to catalyze basic biology and disease-oriented research. | |
| HuBMAP | The goal of the Human BioMolecular Atlas Program (HuBMAP) is to develop an open and global platform to map healthy cells in the human body. | |
| Human Cell Atlas | To create comprehensive reference maps of all human cells—the fundamental units of life—as a basis for both understanding human health and diagnosing, monitoring, and treating disease. | |
| 4D Nucleome | The 4D Nucleome Network aims to develop and apply approaches to map the structure and dynamics of the human and mouse genomes in space and time with the goal of gaining deeper mechanistic insights into how the nucleus is organized and functions. | |
| GTEx | a data resource and tissue bank to study the relationship between genetic variants and gene expression in multiple human tissues and across individuals. also between male and female. | |
| gnomAD | The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community. | |
| WTCCC | The WTCCC aims were to exploit progress in understanding of patterns of human genome sequence variation along with advances in high-throughput genotyping technologies, and to explore the utility, design and analyses of genome-wide association (GWA) studies. | |
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