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Genetic Variance in Human Disease

With the advance of whole exome and genome sequencing, researchers are flooded with data that can help decipher the genetics of human disease. New technologies, computational methods and model systems are revealing how human genetic variance contributes to disease mechanisms. This ongoing collection highlights this evolving area of research and shows how, by integrating functional studies in model systems with genomic medicine, it is possible to diagnose, prognose and treat patients in a more informed and stratified manner.

Other subject collections

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Katie J. Lee; Lisa Rambault; George Bou-Gharios; Peter D. Clegg; Riaz Akhtar; Gabriela Czanner; Rob van ‘t Hof; Elizabeth G. Canty-Laird
Doi: 10.1242/dmm.049428
Sarah M. Alghamdi; Paul N. Schofield; Robert Hoehndorf
Doi: 10.1242/dmm.049441
Monkol Lek; Julija Hmeljak; Kirsty M. Hooper
Doi: 10.1242/dmm.049700
Monkol Lek
Doi: 10.1242/dmm.049694
Che-Hong Chen; Benjamin R. Kraemer; Daria Mochly-Rosen
Doi: 10.1242/dmm.049601
Benjamin J. Livesey; Joseph A. Marsh
Doi: 10.1242/dmm.049510
Aashiq H. Kachroo; Michelle Vandeloo; Brittany M. Greco; Mudabir Abdullah
Doi: 10.1242/dmm.049309
Ann-Kathrin Schalkamp; Nabila Rahman; Jimena Monzón-Sandoval; Cynthia Sandor
Doi: 10.1242/dmm.049376
Nadia Garibaldi; Roberta Besio; Raymond Dalgleish; Simona Villani; Aileen M. Barnes; Joan C. Marini; Antonella Forlino
Doi: 10.1242/dmm.049398
Hugo J. Bellen
Doi: 10.1242/dmm.049500
Monkol Lek; Elaine R. Mardis
Doi: 10.1242/dmm.049426
Olufunmilayo I. Olopade
Doi: 10.1242/dmm.049198
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