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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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María Lachgar-Ruiz; Matías Morín; Elisa Martelletti; Neil J. Ingham; Lorenzo Preite; Morag A. Lewis; Luciana Santos Serrão de Castro; Karen P. Steel; Miguel Ángel Moreno-Pelayo
10.1242/dmm.049757
Michaela Omelková; Christina Dühring Fenger; Marta Murray; Trine Bjørg Hammer; Veronica M. Pravata; Sergio Galan Bartual; Ignacy Czajewski; Allan Bayat; Andrew T. Ferenbach; Marios P. Stavridis; Daan M. F. van Aalten
10.1242/dmm.049132
Brittany T. Truong; Lomeli C. Shull; Ezra Lencer; Eric G. Bend; Michael Field; Elizabeth E. Blue; Michael J. Bamshad; Cindy Skinner; David Everman; Charles E. Schwartz; Heather Flanagan-Steet; Kristin B. Artinger
10.1242/dmm.049977
Emilia Baranowska; Katarzyna Niedzwiecka; Chiranjit Panja; Camille Charles; Alain Dautant; Jarosław Poznanski; Jean-Paul di Rago; Déborah Tribouillard-Tanvier; Roza Kucharczyk
10.1242/dmm.049783
Christina T. Stankey; James C. Lee
10.1242/dmm.049790
Michael Gundry; Vijay G. Sankaran
10.1242/dmm.049857
Ambroise Wonkam
10.1242/dmm.049765
Rob Willemsen; R. Frank Kooy
10.1242/dmm.049485
Johanna Uusimaa; Johannes Kettunen; Teppo Varilo; Irma Järvelä; Jukka Kallijärvi; Helena Kääriäinen; Minna Laine; Risto Lapatto; Päivi Myllynen; Harri Niinikoski; Elisa Rahikkala; Anu Suomalainen; Ritva Tikkanen; Henna Tyynismaa; Päivi Vieira; Tomas Zarybnicky; Petra Sipilä; Satu Kuure; Reetta Hinttala
10.1242/dmm.049490
Katie J. Lee; Lisa Rambault; George Bou-Gharios; Peter D. Clegg; Riaz Akhtar; Gabriela Czanner; Rob van ‘t Hof; Elizabeth G. Canty-Laird
10.1242/dmm.049428
Sarah M. Alghamdi; Paul N. Schofield; Robert Hoehndorf
10.1242/dmm.049441
Monkol Lek; Julija Hmeljak; Kirsty M. Hooper
10.1242/dmm.049700
Monkol Lek
10.1242/dmm.049694
Che-Hong Chen; Benjamin R. Kraemer; Daria Mochly-Rosen
10.1242/dmm.049601
Benjamin J. Livesey; Joseph A. Marsh
10.1242/dmm.049510
Aashiq H. Kachroo; Michelle Vandeloo; Brittany M. Greco; Mudabir Abdullah
10.1242/dmm.049309
Ann-Kathrin Schalkamp; Nabila Rahman; Jimena Monzón-Sandoval; Cynthia Sandor
10.1242/dmm.049376
Nadia Garibaldi; Roberta Besio; Raymond Dalgleish; Simona Villani; Aileen M. Barnes; Joan C. Marini; Antonella Forlino
10.1242/dmm.049398
Hugo J. Bellen
10.1242/dmm.049500
Monkol Lek; Elaine R. Mardis
10.1242/dmm.049426
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