Tarjinder Singh
A5052132468- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Epilepsy research and treatment
- Nutrition, Genetics, and Disease
- Bioinformatics and Genomic Networks
- Genomics and Phylogenetic Studies
- Schizophrenia research and treatment
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Health, Environment, Cognitive Aging
- Osteoarthritis Treatment and Mechanisms
- Chromosomal and Genetic Variations
- Hemoglobinopathies and Related Disorders
- Birth, Development, and Health
- Cancer-related molecular mechanisms research
- Prenatal Screening and Diagnostics
- Genetics and Physical Performance
- Genetic Neurodegenerative Diseases
- Congenital Heart Disease Studies
- Genetics, Aging, and Longevity in Model Organisms
- Single-cell and spatial transcriptomics
New York Genome Center
2023-2025
Columbia University
2023-2025
Columbia University Irving Medical Center
2023-2025
Broad Institute
2017-2024
Wellcome Sanger Institute
2014-2024
Massachusetts General Hospital
2018-2024
Stanley Center for Psychiatric Research
2017-2024
New York State Psychiatric Institute
2024
Brain (Germany)
2023
Allen Institute for Brain Science
2023
Abstract Microglia and complement can mediate neurodegeneration in Alzheimer’s disease (AD). By integrative multi-omics analysis, here we show that astrocytic microglial proteins are increased Tau P301S synapse fractions with age a C1q-dependent manner. In addition to microglia, identified astrocytes contribute substantially elimination hippocampi. Notably, found relatively more excitatory marker lysosomes, whereas lysosomes contained inhibitory material. C1q deletion reduced...
The human skeletal form underlies bipedalism, but the genetic basis of proportions (SPs) is not well characterized. We applied deep-learning models to 31,221 x-rays from UK Biobank extract a comprehensive set SPs, which were associated with 145 independent loci genome-wide. Structural equation modeling suggested that limb exhibited strong sharing width and torso proportions. Polygenic score analysis identified specific associations between osteoarthritis hip knee SPs. In contrast other...
Abstract By meta-analyzing the whole-exomes of 24,248 cases and 97,322 controls, we implicate ultra-rare coding variants (URVs) in ten genes as conferring substantial risk for schizophrenia (odds ratios 3 - 50, P < 2.14 × 10 -6 ), 32 at a FDR 5%. These have greatest expression central nervous system neurons diverse molecular functions that include formation, structure, function synapse. The associations NMDA receptor subunit GRIN2A AMPA GRIA3 provide support dysfunction glutamatergic...
Fetal hemoglobin (HbF) is an important modulator of sickle cell disease (SCD). HbF has previously been shown to be affected by variants at three loci on chromosomes 2, 6 and 11, but it likely that additional remain discovered.We conducted a genome-wide association study (GWAS) in 1,213 SCA (HbSS/HbSβ0) patients Tanzania. Genotyping was done with Illumina Omni2.5 array imputation using 1000 Genomes Phase I release data. Association analysed linear mixed model control for complex population...
Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations several chromatin ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation CHD3, identified whole genome sequencing cohort children rare speech To gain comprehensive view features associated disruption this gene, we use genotype-driven approach, collecting and characterizing 35 individuals CHD3 mutations overlapping phenotypes. Most...
Abstract Compelling evidence suggests that human cognitive function is strongly influenced by genetics. Here, we conduct a large-scale exome study to examine whether rare protein-coding variants impact in the adult population ( n = 485,930). We identify eight genes ADGRB2 , KDM5B GIGYF1 ANKRD12 SLC8A1 RC3H2 CACNA1A and BCAS3 ) are associated with through coding large effects. Rare genetic architecture for partially overlaps of neurodevelopmental disorders. In case show how dosage one these...
Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure share genetic factors, we pooled CNV data from 10,590 individuals disorders, 16,109 clinically validated epilepsy, and 492,324 population controls identified 25 genome-wide significant loci, 22 of which novel such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications...
Mobile genetic Elements (MEs) are segments of DNA which can copy themselves and other transcribed sequences through the process retrotransposition (RT). In humans several disorders have been attributed to RT, but role RT in severe developmental (DD) has not yet explored. Here we identify RT-derived events 9738 exome sequenced trios with DD-affected probands. We ascertain 9 de novo MEs, 4 likely causative patient's symptoms (0.04%), as well 2 gene retroduplications. Beyond identifying...
Abstract It is unclear how the 22q11.2 deletion predisposes to psychiatric disease. To study this, we generated induced pluripotent stem cells from carriers and controls utilized CRISPR/Cas9 introduce heterozygous into a control cell line. Here, show that upon differentiation neural progenitor cells, acted in trans alter abundance of transcripts associated with risk for neurodevelopmental disorders including autism. In excitatory neurons, altered encoded presynaptic factors were genetic...
Sleep problems are common and related to a worse quality of life in patients with schizophrenia. Almost all schizophrenia use antipsychotic medications, which usually increase sleep. Still, the differences subjective sleep outcomes between different medications not entirely clear. This study assessed 5466 is part nationwide Finnish SUPER study. We examined how five most (clozapine, olanzapine, quetiapine, aripiprazole, risperidone) associate questionnaire-based logistic regression analyses,...