Jaya Punetha

Just Published: The Application of #NoninvasivePrenatalScreening Using Cell-free DNA in General Risk Pregnancies - ACMG Releases its Highly Anticipated Systematic Evidence-based Review doi.org/10.1016/j.gim.… #cfDNA #prenatalscreening

Looking for something to read for National DNA Day? Check out this great reading list from New York Public Library: nypl.org/blog/2021/04/2…"

🧬 James Watson and Francis Crick published the double helix structure of DNA on April 25th 1953. This discovery was made possible by Rosalind Franklin's X-ray diffraction work. Today we celebrate DNA Day to commemorate this important finding! #DNADay2022 #genetics

Scientists in the Telomere-to-Telomere (#T2T) consortium have published the first complete, gapless human genome sequence. This can lead to a better understanding of our genomic variations and provide insight for missing heritability and human disease. genome.gov/T2T

Shankar Balasubramanian, David Klenerman and Pascal Mayer receive a 2022 Breakthrough Prize in Life Sciences for inventing next generation sequencing technologies – a revolution for biology, ecology and medicine. @Cambridge_Uni @alphanosos breakthroughprize.org/News/65

@thebcn92 @BrentNYT Should I send you some for your birthday 🤪

@BrentNYT @JPunetha

@GladsonJill Hi Jill, happy to connect you to the clinical lab I worked with on that study. If you can DM me your email ID?

Jaya Punetha @JPunetha I found your name on a study involving the Novel COL12A1 gene. If you or someone you know are interested, my 11 year old daughter has this variant and also ATP6VoA2. She has a lot of significance relating to these variants and I have to help her. TIA

@AnneOtation @bloodgenes @Piwdb @saralpulit @garber_manuel @nicolesoranzo @dalygene @HeidiRehm @EBhoj @RobertCGreen @Massgenomics I pledge to oppose racism and hate through active allyship, continuous learning, and listening. Join me by nominating 5 others to do the same. #BlackLivesMatter 👊🏿👊🏽👊🏻I nominate @mfwangler @andimlewis @laurierobak @JPunetha @christinerbeck

Everything’s bigger in Texas 😂👍🏽 @DNAnexus booth 418 limited Apollo edition t-shirt! #ASHG2019 #Genomics #BigData @jawidfatih @IngridPaine

Excited to share the Baylor Hopkins Center for Mendelian Genomics' latest research on arthrogryposis by Pehlivan et al! authors.elsevier.com/c/1ZKTbgeWuDU6 @zcoban @DrAlperGzdrc @JPunetha @CGrochowski @EnderKaraca7 @BCM_HGSC

New! Paine et al. demonstrate the power of analyzing paralogs to identify causes of rare disease. In their work, they identify multiple pathogenic variants in DDX and DHX family members bit.ly/2X8Mb3H

New! Lupski & colleagues explore the genomics of arthrogryposis bit.ly/2KtY2YA

@poseypod @christinerbeck @CMBCarvalho @zcoban @JansonWhite @song_xiaofei @Hadia_BCM @cgonzagaj @EnderKaraca7 @Richard___Du

Some of our current and former BHCMG members! @christinerbeck @CMBCarvalho @zcoban @JansonWhite @song_xiaofei @Hadia_BCM @JPunetha @cgonzagaj @EnderKaraca7 Whom have I missed?

Genetic paradox explained by nonsense nature.com/articles/d4158… original paper nature.com/articles/s4158… @nature @NatureNV

🍏➡️🍎 Check out this #apple #genome #assembly featuring this striking #TransposableElement #phenotype: A gypsy LTR #retrotransposon upstream of a anthocyanin biosynthesis activator turns apples red. 📚nature.com/articles/s4146…, out at @NatureComms #plant #transposon

Some #genetic #syndromes are much more than what they appear to be #Potocki-Lupski syndrome #Smith-Magenis syndrome #mutations blogs.bcm.edu/2019/03/26/fro… via @bcmhouston

Anyone else really want a gel electrophoresis cake now?

New! Cogne et al. identify TRRAP mutations in a range of neuro ow.ly/ZY3v30nRXh0 developmental disorders.

New today! Dowling & colleagues explore the utility of RNA-Seq in diagnosing rare disorders & present a new tool to facilitate analysis. They also show that transdifferentiated myotubes serve as faithful proxies for muscle samples. ow.ly/cusd30nRVVM

Dr. Huda #Zoghbi has invaluable advice for #WomeninSTEM: Shattering “Imposter Syndrome” | The New York Academy of Sciences @bcmhouston #STEM #science bit.ly/2z0chwC