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linkage analysis

Several Causal Variants Found at Genetic Loci Influencing Gene Expression in Humans

With a massively parallel reporter assay (MPRA) approach, investigators found causal variants at loci impacting the expression of hundreds of genes.

COVID-19 Genetic Risk Factor Passed Down From Neanderthals, Study Finds

A gene cluster inherited by modern humans from Neanderthals was recently identified as a risk locus for respiratory failure following SARS-CoV-2 infection.

Numerous Variants in Single Gene Linked to Decreased Blood Oxygen During Sleep

The researchers combined a linkage analysis followed by whole-genome sequencing data to link the DLC1 gene to blood oxygen levels during sleep.

New Mosquito Genome Expected to Serve as Infectious Disease Resource

With long-read sequencing, mapping, and other approaches, researchers assembled a high-quality genome for Aedes aegypti, a notorious infectious disease vector.

Alzheimer's Disease Study Finds Potentially Protective Genetic Variants

Based on the results, RAB10 could be a promising therapeutic target for the prevention of Alzheimer's.

May 22, 2017

Computational Model Offers Clues to Missing Heritability for Complex Human Traits

Feb 27, 2017

Mutations in DCC Gene Linked to Multiple Brain Malformation Conditions

Mar 30, 2016

Familial Autoinflammatory Disease Traced to Missense Mutation in MEFV

Feb 4, 2016

Family Study Uncovers Mutation Involved in Rare Vibration Allergy

Dec 28, 2015

Harvard, Peking University Team Combines NGS, Linkage Analysis to Detect Aneuploidy, SNVs for PGD
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Jul 9, 2015

Team Pins Susceptibility to Innocuous Bacteria, Fungi on Mutations in Single Gene

Jun 19, 2015

Genomic Analysis IDs New Gene Related to Immunodeficiency

May 15, 2014

Linkage Analysis, Exome Sequencing Uncover Novel Variants Associated with Metabolic Syndrome

May 28, 2013

Multiple Variants within Signaling Pathway Linked to Schizophrenia

Oct 5, 2010

Linkage Analysis Combined with Targeted Sequencing Locates Disease Gene in Microcephaly
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The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.