CYTOGENOMICS NEWS

ECA Journal club posted in ECA Facebook page (https://www.facebook.com/Cytogenetic/) and reported here for an easy access to those who didn't subscribe to Facebook.

• Inversion Breakpoints Resolved Using Long-Read Genome Sequencing 19/11/2024
• The Higly Duplicated and Hypervariable Tbc1d3 Gene 15/11/2024
• Extra Blood in Pregnancy 12/11/2024
• Amylase Gene Copy Number Variation 05/11/2024
• Human-Specific Childbirth Problems 29/10/2024
• Measuring X Inactivation Skew for X-Linked Diseases 22/10/2024
• Structural Diversity at 10q11.22 15/10/2024
• Sexual Dimorphism and Differences in Natural Selection in The Two Sexes 08/10/2024
• Management of Secondary Findings in DNA Sequencing 03/10/2024
• Genes That Influence Menopause Age 01/10/2024
• Tandem Repeats and Phenotypic Variation 27/09/2024
• Mendel's Peas Sequenced 20/09/2024
• Cell Biology Tracing Meiotic Errors in Live Oocytes 20/08/2024
• Why Childbirth is Problematic in Humans 13/08/2024
• Bdelloid Rotifers, An Evolutionary Puzzle 06/08/2024
• Ice Age Cytogenomics: Unveiling Ancient Chromosome Mysteries 01/08/2024
• Telomerase Reactivation and Tissue Rejuvenation in Mice 23/07/2024
• RNA as Pesticide 16/07/2024
• Clonal Expansion in Aging 09/07/2024
• Science Has No Dogmas 04/07/2024
• 22q11.2 Deletion and Meningomyelocele 02/07/2024
• The Exploratory Behavior Gene 27/06/2024
• Aging and Fitness 25/06/2024
• Bacteria That Write New Genes 20/06/2024
• Telomere Length and Health 18/06/2024
• Experimental Aneuploidy in Cancer 13/06/2024
• Unlocking the Genetic Secrets of Male Infertility by Exome Sequencing 20/05/2024
• Centromeres in Trisomy 21 13/05/2024
• Length of Human Telomeres 09/05/2024
• Evolution of Human Centromers 07/05/2024
• Expanding Genomic Research to Include Ethnic Minorities Reveals Greater Human Diversity 02/05/2024
• Understanding the Role of Transposable Elements in the Human Genome 26/04/2024
• The Intriguing Story of EPAS1 in Human Groups Living at Extreme Altitudes 22/02/2024
• A Histrorical Review of Structural Variant Discovery 20/02/2024
• Mosaic Loss of Y Chromosome (LOY) 15/02/2024
• X-Inactivation and Autoimmune Diseases 13/02/2024
• Towards Conversational Diagnostic Artificial Intelligence (AI)? 09/02/2024
• Genomic Heterozygosity - Lower Risk of Osteoarthritis 06/02/2024
• Risk of Multiple Sclerosis Inherited from Steppe Pastoralists 01/02/2024
• HLA Functional Diversity and HIV 30/01/2024
• Meiotic Crossovers and Aneuploidies 25/01/2024
• Assortative Mating, Parental Relatedness and Neurodevelopmental Disorders 05/12/2023
• Female-male Dose Compensation in Mosquitoes 30/11/2023
• Karyotype Evolution in Vertebrates 28/11/2023
• Homozygosity and Fertility 23/11/2023
• The Number of the Human Genes 21/11/2023
• Induced Aneuploidy in Cancer 17/10/2023
• More Insight into the Molecular Mechanisms of a Premature Ovarian Failure 12/10/2023
• Long Telomere Syndrome 10/10/2023
• Evolution and Diseases. A Trade Off 05/10/2023
• Whole Genome Doubling and Cancer 03/10/2023
• Age-Specific Biological Mechanisms Governing Human Ovarian Aging 05/09/2023
• An Atlas of Variant Effects 08/08/2023
• Aneuploidies and Cancer: Just Passengers? 05/08/2023
• Primate Evolution and Human Diseases 25/07/2023
• Aneuploidies and Cancer 18/07/2023
• LOY and Cancer 14/07/2023
• Trade-off 12/07/2023
• Mosaic Loss of Y Chromosome in Microglia and Aging 26/06/2023
• Aneuploidies and Gene Expression 21/06/2023
• Recombination Between Acrocentric Chromosomes 06/06/2023
• Decoding the Genetic Etiology of Female Infertility 22/05/2023
• Genomic Inversions 19/05/2023
• Somatic Mosaicism 16/05/2023
• X-Inactivation 12/05/2023
• Karyotype Abnormalities in Reference Cell Lines Used in the Laboratory 10/05/2023
• The mouse model can not be used 08/05/2023
• The puzzle of aging 05/05/2023
• What Made Us Humans? 04/05/2023
• Associations of Psychiatric Disorders with Sex Chromosome Aneuploidies in the Danish IPSYCH2015 Dataset: A Case-Cohort Study 23/03/2023
• 22q11.2 CNVs in the General Population 17/03/2023
• Genes Under Selection in Cancer 02/03/2023
• Reproduction - Longevity Tradeoff 23/02/2023
• The Sequence and Genotype Variation in 150,119 Genomes From the UK Biobank 16/02/2023
• Trisomy Syndromes 09/02/2023
• Genetically Transitional Disease 02/02/2023
• Nuclear Location Foretells Chromosome Anomalies 26/01/2023
• Rejuvenation 17/01/2023
• Poliploidy in Animals 21/12/2022
• Role of 3D Genome Analysis in the Diagnosis and Therapy of Leukemia and Cancer 07/12/2022
• Ancestral Mammalian Karyotype 23/11/2022
• Aging and Age Reversal 16/11/2022
• Preimplantation Embryos and Glucocorticoids 27/10/2022
• Artificial Karyotype Modification 18/10/2022
• Cognition Rescue in Animal Models and in Patients with Down Syndrome 11/10/2022
• Lactase Persistence Revisited 04/10/2022
• Are De Novo Terminal Deletions the Rescue of Unfavorable Zygotic 29/09/2022
• X-Chromosome Gene Variants and Their Impact on Spermatogenic Failure 21/09/2022
• Complex Genomic Rearrangements and Rare Diseases 14/09/2022
• Loss of Chromosome Y and Higher Mortality in Men 31/08/2022
• LOH and Gene Conversion 23/08/2022
• Rare Variants in Dominant Genes Causing Mild Phenotypic Consequences 05/08/2022
• The Mystery of Chromosome Structure 02/08/2022
• In Situ Sequencing: Towards A Holistic View of Genome Architecture During Interphase 26/07/2022
• Breakage-Fusion-Bridge Cycle 18/07/2022
• Mutation Rate and Lifespan 13/07/2022
• Segmental Duplications (SD) in a Complete Human Genome 30/06/2022
• Whole-Genome Risk Prediction in Human Preimplantation Embryos 24/06/2022
• Older Men Produce More Mutated Sperm Than Younger Men Do 22/06/2022
• Clinical Diagnosis by Whole Genome Sequencing in Just One Day 21/04/2022
• KIFC1 and Spindle Instability in Human Oocytes 14/04/2022
• Pathogenicity Prediction Of Structural Variants 08/04/2022
• Long Life to the Y-Chromosome 25/03/2022
• Celebrating a Century of Studies of Gene Balance 18/03/2022
• Transchromosomic Rat With Human Chromosome 09/03/2022
• Male Infertility 07/03/2022
• Comprehensive Review About The Effects of Aneuploidy 24/02/2022
• MCM9 Polymorphisms and Reduced Recombination of Chromosome 21 During Maternal Meiosis 16/02/2022
• A Large Study on the Frequency of Somatic CNV in Lymphocytes 11/02/2022
• Aneuploidy in Cancer and Resistance to Chemotherapy 08/02/2022
• Parent-of-Origin Effects (Imprinting) 03/02/2022
• Mutant Clones in Normal Epithelium Outcompete and Eliminate Emerging Tumours 11/01/2022
• Optical Genome Mapping 04/01/2022
• Mobile Elements and the Human Genome 24/12/2021
• A New Era in Antibiotics? 14/12/2021
• Aging and DNA Repair 09/12/2021
• Mosaicism in Preimplantation Embryos 03/12/2021
• Structural Variations (SVs) and Gene Expression 03/12/2021
• Epigenetic Inheritance of Trained Immunity in Male Mice 30/11/2021
• Criminal "Domestication" of Elephants 25/11/2021
• Targeted Long-Read Sequencing and Genetic Diseases 23/11/2021
• Hugo Gene Nomenclature Committee (HGNC Recommendations for the Designation Of Gene Fusions 18/11/2021
• Programmed Genetic Material Elimination in Eukaryotes 18/11/2021
• Pathogenicity Prediction of Rare Variants 15/11/2021
• Social Evolution in Mammals 15/11/2021
• NHS Trial of the Galleri Blood Test for Presymptomatic Detection of Cancer 04/11/2021
• The Dark and The Bright Side of Chromosome Instability 04/11/2021
• Basic Research and COVID-19 22/10/2021
• Treatabolome Databases 14/10/2021
• DNA Damage as a Unifying Cause of Aging 07/10/2021
• Birth Weight and Genetics 30/09/2021
• Evolutionary Advantages of Sexual Reproduction Explained in Plain Words 23/09/2021
• Sperm Mosaicism 17/09/2021
• Long-Read Sequencing and Missing Disease-Causing Variation 10/09/2021
• Genes That Determine The Onset Of Menopause 06/09/2021
• Why Are Humans So Thirsty for Water? 25/08/2021
• Rewriting the Genetic Code 11/08/2021
• Separase Deregulation and Chromosome Nondisjunction in Tumors 02/08/2021
• Heterosis 26/07/2021
• Transgenerational Effects to Explain the Rise in Prevalence of Mental Health Disorders 28/06/2021
• Chromosome Instability: A Parallel Between Species and Cancer Evolution 22/06/2021
• Genetic Burden in Europeans 16/06/2021
• The Complete Sequence of a Human Genome 17/06/2021
• Expressed Pseudogenes 07/06/2021
• DNA Damage as a Unifying Cause of Ageing 04/06/2021
• Centromere Organization and Evolution of Chromosome 02/06/2021
• Parental Genome Unification at the Starting Point of the Embryo Is Highly Error Prone 28/05/2021
• Placental Mosaicism 24/05/2021
• Sex Determination in Creeping Vole 18/05/2021
• Evolution of Sweating in Humans 13/04/2021
• Ethics of "Opportunistic” Whole Exome/Genome Screening 11/04/2021
• The Demography of Down Syndrome in 39 European Countries 06/04/2021
• Hypertrophic Cardiomyopathy Expression 30/04/2021
• De Novo Structural Mutations 29/04/2021
• Ongoing Retroviral Invasion of the Koala Germline and Its Contribution to Cancer 28/04/2021
• Phenotypic Impact of Robertsonian Translocations on Their Carriers 31/03/2021
• Recent History of Homo Sapiens 09/03/2021
• Genes and Cognitive Abilities 02/03/2021
• Differences Between Monozygotic Twins 18/02/2021
• Line-1 Activity to Explain Early Spontaneous Miscarriage? 10/02/2021
• Preserving Cytogenomic Competence of Diagnostic Genome Laboratories in the Age of Whole Genome Sequencing 05/02/2021
• Alternative Telomeres 05/02/2021
• Never Ending Human Genome Project 26/01/2021
• New Insights into the XY Body Functions 20/01/2021
• How to Select A Shortlist of Genetic Markers for Male Infertility? 15/01/2021
• Sperm Genomes 11/01/2021
• The Effects of Common Structural Variants on 3D Chromatin Structure 30/12/2020
• Recombination Failure in Human Oocites 25/12/2020
• Family Relationships and Social Organization in Bell Beaker Culture Communities 21/12/2020
• Restocking, Heterozygosity, and the "Pure Race" 17/12/2020
• Aneuploidy Helps Cancer. How? 8/12/2020
• Chromosome Instability and Tumor Evolution 30/11/2020
• Exome Sequencing for Newborn Screening 25/11/2020
• Genes and behavior 23/11/2020
• Repeat Expansions - Fragile Sites - and Autism Spectrum Disorder (ASD) 19/11/2020
• Genetics and Odor Perception 23/10/2020
• COVID-19 and... Neanderthals 14/10/2020
• Online Karyotyping 07/10/2020
• To what extend does gene dosage matter? 01/10/2020
• FISH and CHIPS 29/09/2020
• Natural Selection vs. Neutral Evolution 15/09/2020
• The X-Chromosome Telomere-to-Telomere, No Gaps 09/09/2020
• Loss of function genes 7/09/2020
• Female infertility 20/08/2020
• Neanderthal in Icelanders 18/08/2020
• Noncoding variants 11/08/2020
• Human chimeras 4/08/2020
• Next Generation Mapping 30/07/2020
• Human variation. An update 23/07/2020
• Aneuploidy and mosaicism in human embryos 16/07/2020
• But what does science say? 19/06/2020
• CRISPER on demand
• Neandertal fertility gene 10/07/2020
• Male/female ratio among Covid-19 deaths 4/05/2020
• A chromosomal inversion heterozygosity that has lasted for 8 million years 17/03/2020
• Tumor evolution 10/03/2020
• Chromosomal segregation fidelity 3/03/2020
• Disruption of genes in translocations 25/02/2020
• Killer whale menopause 11/02/2020
• Micronuclei and chromothripsis 4/02/2020
• New fertility gene 28/01/2020
• Ovarian storage problems 23/01/2020
• DNA Editing of embryos 21/01/2020
• Cohesin and chromatin 3d structure 17/01/2020
• Trisomies suppression. New hope
• Pig transplants 9/01/2020
• Self-domestication - The taming of the (male) shrew 27/12/2019
• Mitotic errors pre-meiotic 24/12/2019
• Chromatin accessibility 20/12/2019
• Paternal age and aneuploidy 12/12/2019
• Loss of chromosome Y in males 6/12/2019
• CRISPR - single base correction 6/12/2019
• CRISPR and fetal Hb 3/12/2019
• Genomic code 25/11/2019
• Ethics in biology (CRISPR) 28/11/2019
• Non invasive prenatal testing in the Netherlands 21/11/2019
• Down syndrome: new persepctives for the care? 19/11/2019
• Genes from the junkyard 12/11/2019
• Adaptive archaic introgression 8/11/2019
• Type A blood converted 5/11/2019
• Mitelman Database 1/11/2019
• Off-target toxicity 28/10/2019