The 69th Annual Meeting of the Japan Society of Human Genetics

Evolving Personalized Medicine for Breast Cancer: Expectations for PARP Inhibitors

Chair：Akihiro Sakurai（Department of Medical Genetics and Genomics, Sapporo Medical University）

OhmX platform for human whole-genome structural variation analysis

Chair：Tomohiro Yamamoto（Hitachi High-Tech）

Long-read sequence analysis of GAA repeat region in FGF14

Chair：Hiroyuki Ishiura（Okayama University）

Beyond short-read sequencing: Illuminating light on the dark regions of the human genome

Chair：Ryo Itaya（Illumina K.K.）

Diagnosis and treatment of aHUS as a genetic disorder

Chair：Naomichi Matsumoto（Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan）

Efforts to build a health care system based on genetic information

Chair：Hiroyuki Ishiura（Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University）

Comprehensive Genome Analysis becoming Increasingly Generalized

Chairs：Kazuyuki Matsushita（Clinical Center of Cancer Genomics, Chiba University）, Tasuku Mariya（Department of Genetics and Genomics, Sapporo Medical University）

The first step in chromosomal microarray analysis: tips for copy number variant interpretation

Chair：Kenji Kurosawa（Center for Medical Genetics, National Center for Child Health and Development）

Clinical utility of 'extended exome analysis' with the addition of custom capture probes for protein coding and other regions

Chair：Masanori Nogcuhi（Twist Bioscience）

The New Era of Hereditary Tumors with Multigene Panel Testing (MGPT)

Chair：Akira Hirasawa（Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Science, Okayama University）

Therapeutic strategies for spinal muscular atrophy as a multi-organ disease

Chair：Reiko Arakawa（National Center for Global Health and Medicine Department of Genomic Medicine）

Screening, Diagnosis and Treatment of Lysosomal Disease in Practice

Chair：Fumio Takada（Department of Medical Genetics, Kitasato University Graduate School of Medical Science）

Multidisciplinary Collaboration in the Management of ATTRv Amyloidosis

Chair：Ichiro Yabe（Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University）

Diagnosis and novel treatment of phenylketonuria

Chair：Yoshihiro Maruo（Department of Pediatrics, Shiga University of Medical Science）

What you’re missing matters- Reveal the biology that will transform human health

Chair：Hirotomo Saitsu（Hamamatsu University School of Medicine Biochemistry Department）