Personal Genomics

World Sickle Cell Awareness Day

Jun 18, 2026

From a Single Mutation to Informed Family Planning Every year on World Sickle Cell Awareness Day, we reflect on how a single change in our DNA can ripple across generations, populations, and healthcare systems worldwide. Sickle cell disease (SCD) is one of the most powerful examples of this reality, where…

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Pharmacogenomic Variants That Differ Across Populations

Jun 9, 2026

Pharmacogenomic (PGx) testing tailors drug selection and dosing to a patient’s genetic profile, reducing adverse drug reactions and improving therapeutic outcomes. The clinical recommendations that drive PGx, published by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the FDA, are evidence-based and guideline-backed. However, many of the most clinically important PGx…

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From Ovarian Cancer to Rare Genetic Disorders: Customer Publications | May 2026

May 28, 2026

In three published studies from this month, researchers used our genetic analysis software to investigate diverse and challenging genetic questions: identifying potential ovarian cancer susceptibility linked to germline ATRIP variants, expanding the clinical and molecular understanding of VPS35L-related Ritscher–Schinzel syndrome, and exploring the genomic landscape of early-onset oral tongue squamous…

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Precision Medicine in Action: Why Testicular Cancer Awareness Month Matters 

Apr 6, 2026

April is Testicular Cancer Awareness Month. This is an opportunity not only to emphasize early detection, but to reflect on how far oncology has advanced in the era of precision medicine. Testicular cancer represents one of the most curable solid tumors in modern oncology. Yet its management illustrates a broader truth: outcomes improve when early clinical vigilance is…

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National Genome Projects are Foundational to Precision Medicine at Scale

Mar 26, 2026

Precision medicine has reached an inflection point. The science is proven, clinical relevance is clear, and the cost of genomic technologies continues to decline. What now determines impact is scale. National genome projects represent one of the most powerful mechanisms for translating genomic science into measurable population health outcomes. By…

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Rare Disease Day is February 28th

Feb 25, 2026

Rare Diseases: A Global Health Imperative  Rare Disease Day highlights a reality that is often misunderstood. Any single rare disease affects a small number of patients, but rare diseases as a category are not rare at all. Today, more than 7,000 rare diseases have been identified, and many experts place the number closer…

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How VarSeq Supports Inherited Trait Discovery & Carrier Screening

Nov 28, 2025

As we gather around the table this season, many of us reflect on family and where we come from, what connects us, and what we pass on. In the field of genetics, these same concepts are explored through the study of inheritance and carrier screening. NGS analysis software such as…

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Transitioning to Broad-Scale Genomics: From Gene Panels to Whole Genome Sequencing

May 16, 2023

Explore the evolving landscape of genomic analysis, transitioning from targeted gene panels to whole genome sequencing. A recent trend with our customers has been to expand their workflows from small panel sequencing analyses to larger whole exome and genome sequencing analyses. The decreasing cost of sequencing has made this a…

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Prenatal Genetic Screening with VarSeq Webinar Highlights

Mar 16, 2023

Explore the cutting-edge capabilities of VarSeq in prenatal genetic screening as we delve into real-life cases, expert analysis, and efficient strategies to quickly assess Whole Exome Sequencing (WES) samples for genetic abnormalities in our recent webinar. Thank you all to those who attended our VarSeq webinar covering prenatal genetic screening!…

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Predicting the Functional Impact of Genetic Variants Using VarSeq

Aug 9, 2022

Large-scale next-generation sequencing studies are becoming increasingly popular clinical and research tools. One enduring challenge for interpretion of these large amounts of data has been predicting the functional impact of genetic variants. Access to efficient computational tools for predicting the functional impact of variants is crucial to prioritizing the most…

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CNV Probability and Inheritance Based on Coverage with VarSeq

May 17, 2022

The overall objective of Trio Analysis is to leverage inheritance data to determine the ancestry of variants in the proband, whether that be through transmission from the mother and father, or of de novo origin. We have previously covered family based analysis in this blog post and this webcast, but…

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Precision Medicine e-Book

Sep 15, 2015

Precision Medicine e-Book “It’s far more important to know what person the disease has than what disease the person has.” – Hippocrates (460 BC – 370 BC) Almost 2,500 years ago, Hippocrates captured one of the key principles underlying precision medicine. In the 21st century we take the understanding of…

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Analyze Your 23andMe Genotype Files with Golden Helix

Jul 22, 2015

I was definitely an early adopter when it comes to personal genomics. In a recent email to their customer base announcing their one millionth customer, they revealed that I was customer #44,299. And I have been consistently impressed with the product 23andMe provides through their web interface to make your…

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SVS 8.2 – New Capabilities and Features

Aug 7, 2014

Earlier this year we completed the marriage of SVS and GenomeBrowse. When we released Version 8 of SVS we completed a major engineering task. A lot of things under the hood of both products had been changed to create a seamless experience for our users. The new and improved SVS…

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My 23andMe Trio Exomes Arrived: Sneak Peek

Jul 18, 2012

There is nothing cooler than having something arrive that you have been excitedly waiting for: last week I got an email notification that my 23andMe exome results were ready. Actually, I got 3 emails that my exome results were ready. You see, I lucked out. It all began two years…

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Admixture and Blaine Bettinger

Jan 25, 2012

Allow me to introduce you to Blaine Bettinger.  Blaine is a patent attorney who holds a PhD in Biochemistry with a concentration in genetics.  He is also a family history enthusiast who writes the Genetic Genealogist blog, where he gives commentary on applications of genomic science for advancing personal and…

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