Disease / Trait: Sequencing technology: Exome Sequencing RNA Sequencing Whole Genome Sequencing or: Achromatopsia Acne inversa (hidradenitis suppurativa) Acral melanoma Acromicric and Geleophysic Dysplasias Acute lymphoblastic leukemia Acute myeloid leukemia Acute myeloid leukemia (M5 subtype) Acute promyelocytic leukemia (APL) Alcohol exposure Altitude adaptation Alzheimer's Disease Amelogenesis imperfecta and gingival hyperplasia syndrome Amyotrophic lateral sclerosis (ALS) Anauxetic dysplasia Aplastic anemia Autism spectrum disorder Autoimmune disorder Autoimmune lymphoproliferative syndrome Autosomal dominant Kufs disease (ADKD) Autosomal dominant retinitis pigmentosa (adRP) Autosomal recessive dilated cardiomyopathy Autosomal recessive juvenile amyotrophic lateral sclerosis Autosomal recessive non-syndromic mental retardation Autosomal recessive progressive external ophthalmoplegia Autosomal recessive split hand and foot malformation Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis Autosomal dominant limb-girdle muscular dystrophy Autosomal-recessive intellectual disability Autosomal-recessive spinocerebellar ataxia with psychomotor retardation B cell defect Baraitser-Winter syndrome Bartsocas-Papas syndrome Basal-like breast cancer Benign fleck retina Breast cancer Brown-Vialetto-van Laere syndrome Cancer Carnevale, Malpuech, oculo-skeletal-abdominal, and Michels Syndrome Celiac disease Cervical dystonia Charcot-Marie-Tooth disease Chime syndrome Chondrodysplasia Chronic cocaine exposure Chronic lymphocytic leukaemia Chronic lymphocytic leukemia Chronic mucocutaneous candidiasis Chronic myeloid leukemia (CML) Ciliopathies with Skeletal Anomalies and Renal Insufficiency Clear cell renal cell carcinoma (ccRCC) Coffin-Siris syndrome Colorectal cancer Combined malonic and methylmalonic aciduria Cone-rod dystrophy (CRD) Congenital chloride diarrhea Congenital hypomyelinating disorders Congenital motor nystagmus Cranioectodermal dysplasia Dendritic cell, monocyte, B and NK lymphoid deficiency Diffuse intrinsic pontine glioma diffuse large B-cell lymphoma (DLBCL) Dilated cardiomyopathy Dominant axonal Charcot-Marie-Tooth disease Down syndrome Dystonias Early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) Emery-Dreifuss muscular dystrophy Familial diarrhea Familial glucocorticoid deficiency Familial hypobetalipoproteinemia Familial hyperkalemic hypertension (FHHt) Familial thoracic aortic aneurysms and dissection Fanconi anaemia (FA) Fatty acid hydroxylase-associated neurodegeneration Fowler syndrome Freeman-Sheldon syndrome (FSS) French-American-British subtype M1 acute myeloid leukemia Gastric cancer Glioblastoma multiforme Global eye developmental defects Gout and serum uric acid levels Granulosa-Cell Tumors of the Ovary Gray platelet syndrome Hairy-cell leukemia Hajdu-Cheney syndrome Head and neck squamous cell carcinoma (HNSCC) Hemophilia A Hepatitis C virus-positive hepatocellular cancer Hepatocellular carcinoma Hereditary diffuse leukoencephalopathy with spheroids (HDLS) Hereditary hypotrichosis simplex Hereditary pheochromocytoma Hereditary progeroid syndrome Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss Hereditary spastic paraparesis (HSP) Hereditary spastic paraplegia type 12 Hermansky-Pudlak-like primary immunodeficiency syndrome Heterotaxy-spectrum cardiovascular disorders High myopia High-grade endometrial stromal sarcoma Hodgkin lymphoma Human Height Hypermethioninemia Hyperphosphatasia mental retardation (HPMR) syndrome Hypertrophic cardiomyopathy Hypothyroidism Ichthyosis, Intellectual Disability, and Spastic Quadriplegia Idiopathic infantile Hypercalcemia Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2 Intellectual disability Joubert syndrome (JBTS) Joubert Syndrome Related Disorder Kabuki syndrome Kaposi sarcoma Knobloch syndrome Kohlschutter-Tonz Syndrome Leber congenital amaurosis Leukemia Leukodystrophy Li-Fraumeni syndrome with medulloblastoma (LFS-MB) Lobular breast tumour lung adenocarcinomas Lung cancer Malformations of occipital cortical development Malignant pleural mesothelioma (MPM) Mantle cell lymphoma (MCL) Mast-cell leukemia Melanoma Metachondromatosis (MC) Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) Microphthalmia, anophthalmia, and coloboma (MAC) Miller syndrome Primary ciliary dyskinesia Mitochondrial cardiomyopathy Mosaic variegated aneuploidy syndrome Multiple endocrine neoplasia Multiple myeloma Multiple sclerosis Myeloid malignancies Myelodysplasia Myelodysplastic syndrome Myelodysplastic syndromes-derived chemotherapy-resistant secondary acute myeloid leukemia Myeloproliferative Neoplasm Myhre syndrome Neonatal diabetes mellitus Neoplastic cysts of the pancreas Nephrotic-range proteinuria Neuroacanthocytosis Neuroblastoma Neuronal migration disorders Nickel exposure Non-brainstem pediatric glioblastoma Non-small-cell lung cancer Nonsyndromic hearing loss Novel inborn error of folate metabolism Oculocutaneous albinism and neutropenia Ohdo syndrome Oligodendroglioma Oral squamous cell carcinoma Oropharyngeal Cancer Osteogenesis imperfecta Osteogenesis imperfecta type VI Osteosarcoma Ovarian cancer Pancreatic cancer Parkinsonism Paroxysmal kinesigenic dyskinesia Perrault syndrome Plasma levels of the adipocytokine adiponectin Polymicrogyria Prenatal ventriculomegaly Primary failure of tooth eruption Primary hypertrophic osteoarthropathy Primary Immunodeficiencies Primary lymphoedema Progressive external ophthalmoplegia Prostate adenocarcinoma Prostate cancer Proteus syndrome Pseudohypoaldosteronism type II (PHAII) Repiratory chain complex I deficiency Retinitis pigmentosa Rhinoscleroma (RS) Schinzel-Giedion syndrome Seckel syndrome Serous ovarian cancer Severe brain malformation Severe intellectual disability with neuronal migration defects Sick sinus syndrome Sitosterolemia Skeletal Dysplasia and Joint Laxity Small-cell lung cancer Smoking Spastic Ataxia-Neuropathy Syndrome Spastic paraplegia type 47 Spinocerebellar ataxia Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type Spondyloepiphyseal dysplasia and retinitis pigmentosa Steroid-resistant nephrotic syndrome T-cell large granular lymphocytic leukemia T-cell leukemia (T-ALL) Therapy-related acute myeloid leukemia Tourette syndrome/chronic tic disorder Uterine Leiomyomas Van Den Ende-Gupta syndrome Weaver Syndrome Well-differentiated papillary mesothelioma of the peritoneum Wolfram syndrome X linked leucoencephalopathy XX ovarian dysgenesis Platform: Illumina SOLiD 454 HeliScope Complete Genomics Gene: Software: Mutation type: Somatic Germline First author (last name): Journal: From: JanuaryFebruary MarchAprilMay JuneJulyAugust SeptemberOctober NovemberDecember or: American Journal of Hematology American Journal of Medical Genetics Part A Annals of Neurology Archives of Ophthalmology Blood BMC Genomics BMC Medical Genomics Brain Breast Cancer Research and Treatment Cancer Prevention Research Circulation Research Circulation: Cardiovascular Genetics Clinical Genetics European Journal of Human Genetics Genome Biology Genome Research Haematologica Human Genetics Human Molecular Genetics Human Mutation Investigative Ophthalmology & Visual Science Journal of Bone and Mineral Research Journal of Human Genetics Journal of Investigative Dermatology Journal of Medical Genetics Journal of Pathology Journal of the American Society of Nephrology Kidney International Leukemia Molecular Genetics and Metabolism Molecular Vision Movement Disorders Nature Nature Biotechnology Nature Genetics Nature Medicine Neurobiology of Aging Neuron Nucleic Acids Research Oncotarget Parkinsonism and Related Disorders PLoS Biology PLoS Genetics PLoS One Proceedings of the National Academy of Sciences Scandinavian Journal of Immunology Science The American Journal of Human Genetics The Journal of Clinical Endocrinology & Metabolism The Journal of Experimental Medicine The Journal of Pathology The Journal of the American Medical Association The New England Journal of Medicine To: JanuaryFebruary MarchAprilMay JuneJulyAugust SeptemberOctober NovemberDecember

---