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New Research in Prenatal DNA Sequencing

I didn’t build in quite enough buffer time to get started on my next reader-initiated travel blog (it’s a secret – I’m not telling until I get there). I’m going to shoot out of the door in this next break. There may be a cat picture for my 3:30pm post. Just to warn you.

If you want to send me somewhere in the Minneapolis area, simply donate $10 to SSA and in the Topic Suggestion box write “Visit” and a place in Minneapolis.

Send MOAR money to the SSA! Put my name in the Blogger spot of the form, and request one of my reader challenges or suggest a topic that you’d like me to write about. Please? I’ll beg. On video. In song if need be. It only gets wackier around here the later we get into this.

We haven’t had any science yet. How about this cool story?

Invasive fetal (or prenatal) testing is serious business. Chorionic villus testing and amniocentesis can be used to help detect chromosomal abnormalities or disorders, but there is a small but noted risk of miscarriage with these procedures. On June 6th the Los Angeles Times reported on research being performed that would allow much less risky sequencing of fetal DNA:

To set about their task, Shendure’s team started by sequencing the genome of an anonymous pregnant woman, using a complete sample of her DNA obtained from her blood cells. They also sequenced free-floating DNA fragments extracted from her blood plasma, repeating their work until they had decoded every part of the human genome 80 times.

That plasma contained a mix of 10% fetal DNA and 90% maternal DNA, all in tiny fragments. The scientists needed to be able to tell which pieces were from the mother and which belonged to the fetus.

To solve that problem, the scientists relied on the fact that genetic material is inherited in long strands of DNA, called chromosomes — and that tiny genetic variations on the same chromosome are usually inherited together, in blocks known as haplotypes. If a given haplotype was present in the fetus as well as in the mother, it would be detected in the plasma in extra amounts.

The scientists also sequenced the father’s DNA, which was extracted from saliva. This allowed the team to figure out whether genetic variations in the fetus that didn’t match the mother were inherited from the father or were new mutations. On average, about 50 new mutations show up in a fetus.

The scientists checked their results against a blood sample taken from the baby’s umbilical cord after birth. Their calculations were more than 98% correct, they found, and they had detected 39 out of the 44 new mutations. None of those mutations had known medical consequences, the researchers said.

This approach could be used to devise a single test to screen for the 3,000 known disorders that are caused by mistakes in single genes. Individually, they are rare, but together they affect about 1% of births.

This is post 19 of 49 in the SSAweek Biodork Blogathon. Donate to the SSA today! Read more about my reader challenges here.

New Research in Prenatal DNA Sequencing

Understanding p-values

A couple of days ago I was trying to nail down p-value, significance levels and null hypotheses. I know that if the p-value is lower than 0.05, the result is significant and the null hypothesis is rejected – but that’s just memorization. I wanted to understand it, know when it should be applied, and be able to explain it to others. I turned to my trusty co-worker, R., to help in this endeavor. (If you prefer you can skip the dorky “Brianne comes to understand p-values” conversation and go right to the “why this shit is important” section below.)

Continue reading “Understanding p-values”

Understanding p-values

FTF1 PZ Myers – Scientists! If you're not an atheist, you aren't doing science right!

This entry is a  recap and review of PZ Myers’ Freethought Festival 2012 presentation as observed by me as an audience member. Shitty writing or misinterpretation of the presenter’s material is completely my fault. If you see any egregious errors or you think I got something wrong, please let me know in the comments or feel free to email me at bio_dork(at)hotmail(dot)com.  

With a level of maturity rarely seen in presentations of this type, PZ Myers from Pharyngula somberly and respectfully called all scientists to abandon superstition and set down their God beliefs.

Oh, I’m sorry. Are you experiencing déjà vu? As promised – a second viewing of the divine nipple tweak.

“Science is godless. Relgion is nonsense. ” These are the themes that ran through Dr. Myers presentation. Like JT Eberhard’s talk, PZ focused on the arguments and excuses that people give for believing in religion, but PZ focused on the rationalizations that religious scientists give to explain how they can be rational, critical, scientific method-using people and yet retain their religion.

Continue reading “FTF1 PZ Myers – Scientists! If you're not an atheist, you aren't doing science right!”

FTF1 PZ Myers – Scientists! If you're not an atheist, you aren't doing science right!

FTF1 PZ Myers – Scientists! If you’re not an atheist, you aren’t doing science right!

This entry is a  recap and review of PZ Myers’ Freethought Festival 2012 presentation as observed by me as an audience member. Shitty writing or misinterpretation of the presenter’s material is completely my fault. If you see any egregious errors or you think I got something wrong, please let me know in the comments or feel free to email me at bio_dork(at)hotmail(dot)com.  

With a level of maturity rarely seen in presentations of this type, PZ Myers from Pharyngula somberly and respectfully called all scientists to abandon superstition and set down their God beliefs.

Oh, I’m sorry. Are you experiencing déjà vu? As promised – a second viewing of the divine nipple tweak.

“Science is godless. Relgion is nonsense. ” These are the themes that ran through Dr. Myers presentation. Like JT Eberhard’s talk, PZ focused on the arguments and excuses that people give for believing in religion, but PZ focused on the rationalizations that religious scientists give to explain how they can be rational, critical, scientific method-using people and yet retain their religion.

Continue reading “FTF1 PZ Myers – Scientists! If you’re not an atheist, you aren’t doing science right!”

FTF1 PZ Myers – Scientists! If you’re not an atheist, you aren’t doing science right!

Thanks, CASH!

Last night I spoke at Coffman Memorial for the Campus Atheists, Skeptics and Humanists (CASH) meeting. If you’re in the Twin Cities area and want to learn about atheist and skeptic events, you need to join CASH’s Facebook group. They’ve hosted some truly awesome speakers like Michael Shermer, Banachek, JT Eberhard, Jen McCreight, Greta Christina, and some guy named Richard Dawkins(?). And now moi!

This was my first talk that I’ve given about atheism and blogging, and my first “full length” presentation to an atheist/skeptics group (I spoke for an hour and 15 minutes, not exactly a fillibuster, but long enough for me prattling on). You know how in Rainman Dustin Hoffman’s character was able to look at a bunch of objects and instantly know how many there were in the pile? I’m the opposite of that. I think there were maybe 20-30 people in the audience, but I could be really, really off.

Continue reading “Thanks, CASH!”

Thanks, CASH!

Unhappy Scientist

I was speaking to one of the women in our lab yesterday about what we would do if we weren’t in the jobs that we hold. She’s about 10 years from retirement and can’t wait to get out of the “science business”. She says she regrets being a scientist because she doesn’t like who it’s turned her into. She says that her work at our company has made her over-analytical, over-logical, over-ordered, over-skeptical. It’s colored the way she experiences her life outside of work: interactions with friends and family, her finances, her purchasing decisions, her child-rearing, the way she’s handled crises, and she says it makes life too difficult. It’s not her job that makes her unhappy, it’s being a scientist, being unable to be satisfied until she’s sifted through all of the details, asked every question, delved into every aspect of every situation.

In short, she sees the world through the lens of science and doesn’t like the view.

I don’t think that science went wrong. I think she went wrong with science. I know a lot of people who aren’t scientists. Science doesn’t make them happy, so they go into a different line of work. She’s not anti-science, and she’s very good at her job, but it doesn’t make her happy. I feel sad for her that she’s gone so many years in a profession that doesn’t fulfill her.

I talk so much about science appreciation, about the joy and excitement that being a scientist brings me. I share this here because it’s a different story about someone else’s experience with science, one that I hadn’t heard before. Nothing more.

Unhappy Scientist

Skepticon 5 T-Shirts are (almost) here!

You know you want one.

Just click on the image below. And if you enter FtBFtW in the Special Code section you get a free gift. No, I don’t know what it is. But I’m going to find out!

T-shirts will go into production by July or whenever they reach 75 shirts ordered. So the sooner everyone orders, the sooner we all get our shirts. And FYI – last year they sold out of almost every size long before the event.

Continue reading “Skepticon 5 T-Shirts are (almost) here!”

Skepticon 5 T-Shirts are (almost) here!