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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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… 5 Drivers of Discovery 6 • 1,795 Icelanders had whole genome sequencing • Coding mutation (A673T) in the APP gene that – … objectives? • Power estimations • WGS versus WES Whole Genome Sequencing (30X) Families Number Caucasian families 42 …
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… NHGRI’s Clinical Sequencing Exploratory Research (CSER) program supports … to develop and share innovations and best uses of genomic sequencing in the clinical care of individual patients, … in variant signout) Counts as of March, 2014 … Clinical Sequencing Exploratory Research Program.pdf …
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… 1 National Advisory Council for Human Genome Research Concept Clearance for Genomic Technology … Development February 12 -13, 2018 Novel Nucleic Acid Sequencing Technology Development Purpose : The purpose of … remember genomics without, for example, a reference human genome, inexpensive short‐ read sequencing (exemplified by …
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… National Advisory Council for Human Genome Research February 8, 2016 Concept Clearance : Investigator -Initiated Clinical Sequencing Research (iCSR ) Purpose : NHGRI proposes a … scientific research in targeted areas related to clinical genome sequencing , including: 1) studies that enhance our …
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… National Advisory Council for Human Genome Research February 8, 2016 Concept Clearance : Clinical Sequencing Evidence-G enerating Research (CSER2) Purpose : … guidelines . In prioritizing opportunities for clinical genome -sequenc ing research, NHGRI sought wide input in a …
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… Leu stop stop A C Sequence Database stop Tr p Mapping and Sequencing the G Consortium formed U Human Genome Leu Pro His Arg C 5' 3' C Gln A Human G 5' … Development Muscular-dystrophy New strands Sequence-tagged Genome U Asp of yeast artificial gene identified G Val Ala …
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… Mendelian diseases in two main ways. The first is to use genome-wide sequencing (mostly whole exome sequencing) to discover the … These variants are displayed in custom tracks on UCSC Genome Browser. x All CMGs deposit to dbGaP the data …
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… National Advisory Council for Human Genome Research … transcriptome analysis, and genome‐wide functional analyses. … 1. Novel Nucleic Acid Sequencing Technology Development … urpose: facilitate development of novel DNA and direct RNA sequencing technologies using …
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… of genomics – A strong need for new DNA and direct RNA sequencing methods – Many and diverse areas of opportune and … protein, etc. from the same sample • High throughput genome modifications (by recombination and transient assays), … $10M $5M * The current concept funds at the previous $1000 genome level , but is split between sequencing RFAs ($2M new …
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… Report'From'A'Planning'Workshop' ' for'the'National'Human'Genome'Research'Institute ' “ From'Genome'Function'to'Biomedical'Insight:'ENCODE'and'Beyond ”' … regions).# # Recommendations#from#the#NHGRI#Genome#Sequencing# Program#workshop# (July#28+29,#2014) …