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1. A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

   Authors:Hannah Demond, Zahra Anvar, Bahia Namavar Jahromi, Angela Sparago, Ankit Verma, Maryam Davari, Luciano Calzari, Silvia Russo, Mojgan Akbarzadeh Jahromi, David Monk, Simon Andrews, Andrea Riccio and Gavin Kelsey

   Content type:Research

   17 December 2019

2. Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases

   Authors:Elias L. Salfati, Emily G. Spencer, Sarah E. Topol, Evan D. Muse, Manuel Rueda, Jonathan R. Lucas, Glenn N. Wagner, Steven Campman, Eric J. Topol and Ali Torkamani

   Content type:Research

   17 December 2019

3. Genomics of circadian rhythms in health and disease

   Authors:Filipa Rijo-Ferreira and Joseph S. Takahashi

   Content type:Review

   17 December 2019

4. FIREVAT: finding reliable variants without artifacts in human cancer samples using etiologically relevant mutational signatures

   Authors:Hyunbin Kim, Andy Jinseok Lee, Jongkeun Lee, Hyonho Chun, Young Seok Ju and Dongwan Hong

   Content type:Software

   17 December 2019

5. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

   Authors:Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R. Beck, Hadia Hijazi, Christopher M. Grochowski, Shen Gu, Pavel Seeman, Karen J. Woodward, Claudia M. B. Carvalho, Grace M. Hobson and James R. Lupski

   Content type:Research

   9 December 2019